HLA-DQB1 (P01920) variants and mutations
HLA-DQB1 (also known as P01920) is a human protein-coding gene encoding a HLA class II histocompatibility antigen, DQ beta 1 chain protein. It pairs with an HLA-DQ alpha chain to present extracellular peptides to CD4 T cells. Specific alleles and haplotypes have major effects on autoimmune susceptibility, including type 1 diabetes and celiac disease, and on immune responses to environmental antigens. This analysis covers 133 HLA-DQB1 variants and mutations. Of these, 89% have computational variant effect predictions. Disease context includes neoplasm, hepatocellular carcinoma, and rosacea. Example HLA-DQB1 variants include A6S, G12D, and A15V.
Variant analysis overview
- Gene: HLA-DQB1
- Protein: P01920
- UniProt accession: P01920
- Organism: Homo sapiens
- Variants analyzed: 133
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 83 unspecified-consequence records; 2 natural variant; 6 stop lost; 1 stop retained variant; 30 missense variants; 5 synonymous variants; 4 frameshift variants; 2 splice-region variants
- Prediction scores: 119 variants have prediction scores (89% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: neoplasm, hepatocellular carcinoma, rosacea, systemic sclerosis, narcolepsy without cataplexy, myeloid sarcoma, Takayasu arteritis, capillary malformation-arteriovenous malformation 1, Capillary malformation - arteriovenous malformation, chronic pancreatitis, vein of Galen aneurysm, autoimmune lymphoproliferative syndrome.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 1 domains; 1 post-translational modification sites.
- Structural context: 25 variants have structural context.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable HLA-DQB1 variants
Examples include A6S, G12D, A15V, A23S, M24I, T27A, T27S, P28L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- A6S (p.Ala6Ser), rs1049056, UniProt VAR 056570, 1000Genomes rs1049056, ESP rs1049056, REVEL 0.03, CADD 10.30, Benign, in allele DQB1*05:01 and allele DQB1*05:02
- G12D (p.Gly12Asp), rs1049057, UniProt VAR 062679, 1000Genomes rs1049057, ESP rs1049057, AlphaMissense 0.08, MetaLR 0.00, Benign, in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*06:02 and allele DQB1*06:12
- A15V (p.Ala15Val), rs3189152, UniProt VAR 062680, 1000Genomes rs3189152, ESP rs3189152, AlphaMissense 0.07, MetaLR 0.00, Benign, in allele DQB1*03:02, allele DQB1*03:03, allele DQB1*04:01, allele DQB1*05:01, a
- A23S (p.Ala23Ser), rs3891176, UniProt VAR 062681, 1000Genomes rs3891176, ExAC rs3891176, REVEL 0.07, CADD 6.31, Benign, in allele DQB1*02:01 and allele DQB1*02:02
- M24I (p.Met24Ile), rs1049059, cosmic curated COSV66571, UniProt VAR 062682, 1000Genomes rs1049059, REVEL 0.09, CADD 19.70, Benign, in allele DQB1*05:01 and allele DQB1*05:02
- T27A (p.Thr27Ala), rs1049060, UniProt VAR 062683, UniProt VAR 062684, 1000Genomes rs1049060, AlphaMissense 0.08, MetaLR 0.00, Benign, in allele DQB1*04:01
- T27S (p.Thr27Ser), rs1049060, UniProt VAR 062684, AlphaMissense 0.08, MetaLR 0.00, Benign, in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*06:02 and allele DQB1*06:12
- P28L (p.Pro28Leu), rs1049062, cosmic curated COSV66570, UniProt VAR 062685, 1000Genomes rs1049062, AlphaMissense 0.06, MetaLR 0.00, Benign, in allele DQB1*06:02 and allele DQB1*06:12
- P28S (p.Pro28Ser), rs1049061, UniProt VAR 062686, 1000Genomes rs1049061, ExAC rs1049061, Benign, in allele DQB1*05:01 and allele DQB1*05:02
- V29L (p.Val29Leu), rs1130366, cosmic curated COSV66569, UniProt VAR 062687, 1000Genomes rs1130366, AlphaMissense 0.06, MetaLR 0.00, Benign, in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*06:02 and allele DQB1*06:12
- S35P (p.Ser35Pro), rs12722106, cosmic curated COSV66569, UniProt VAR 062688, 1000Genomes rs12722106, REVEL 0.18, CADD 12.40, Benign, in allele DQB1*06:01
- Y41F (p.Tyr41Phe), rs9274407, UniProt VAR 062689, 1000Genomes rs9274407, ESP rs9274407, AlphaMissense 0.35, MetaLR 0.02, Benign, in allele DQB1*04:01, allele DQB1*04:02, allele DQB1*04:03, allele DQB1*06:02, a
- Y41L (p.Tyr41Leu), UniProt VAR 062690, Benign, in allele DQB1*06:01 and allele DQB1*06:35
- F43L (p.Phe43Leu), rs56173496, UniProt VAR 062691, ExAC rs56173496, gnomAD rs56173496, REVEL 0.07, CADD 15.00, Benign, in allele DQB1*06:33
- A45G (p.Ala45Gly), rs1130375, UniProt VAR 061472, 1000Genomes rs1130375, ESP rs1130375, AlphaMissense 0.13, MetaLR 0.00, Benign, in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04, a
- M46L (p.Met46Leu), rs1130368, cosmic curated COSV66570, UniProt VAR 061473, 1000Genomes rs1130368, REVEL 0.04, CADD 0.13, Benign, in allele DQB1*03:11, allele DQB1*03:26, allele DQB1*05:01, allele DQB1*05:02, a
- R55L (p.Arg55Leu), rs41540813, cosmic curated COSV66574, UniProt VAR 062692, 1000Genomes rs41540813, REVEL 0.20, CADD 19.90, Benign, in allele DQB1*04:01
- Y58G (p.Tyr58Gly), UniProt VAR 062693, Benign, in allele DQB1*03:05, allele DQB1*03:17, allele DQB1*04:01, allele DQB1*04:02, a
- Y58L (p.Tyr58Leu), rs766817072, UniProt VAR 062694, Benign, in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04, a
- V59L (p.Val59Leu), rs41563539, UniProt VAR 062695, ESP rs41563539, ExAC rs41563539, REVEL 0.12, CADD 7.84, Benign, in allele DQB1*03:18
- T60S (p.Thr60Ser), rs9274405, cosmic curated COSV66569, UniProt VAR 062696, 1000Genomes rs9274405, REVEL 0.08, CADD 0.21, Benign, in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04 an
- Y62H (p.Tyr62His), rs281862065, cosmic curated COSV66574, UniProt VAR 062697, 1000Genomes rs281862065, REVEL 0.02, CADD 5.54, Benign, in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*05:05, a
- Y62S (p.Tyr62Ser), UniProt VAR 062698, Benign, in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04 an
- Y69D (p.Tyr69Asp), rs281874782, cosmic curated COSV66573, UniProt VAR 062699, 1000Genomes rs281874782, REVEL 0.11, CADD 2.02, Benign, in allele DQB1*06:01 and allele DQB1*06:35
- Y69I (p.Tyr69Ile), UniProt VAR 062700, Benign, in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04 an
- A70T (p.Ala70Thr), rs45519640, UniProt VAR 062701, ExAC rs45519640, gnomAD rs45519640, REVEL 0.08, CADD 17.50, Benign, in allele DQB1*03:20
- A70V (p.Ala70Val), rs1063318, cosmic curated COSV66571, UniProt VAR 062702, 1000Genomes rs1063318, REVEL 0.02, CADD 0.00, Benign, in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04, a
- E77G (p.Glu77Gly), rs1049083, cosmic curated COSV66569, UniProt VAR 062703, 1000Genomes rs1049083, AlphaMissense 0.38, MetaLR 0.00, Benign, in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04, a
- V78E (p.Val78Glu), rs9274398, UniProt VAR 062704, 1000Genomes rs9274398, ExAC rs9274398, REVEL 0.10, CADD 8.83, Benign, in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04 an
- Y79F (p.Tyr79Phe), rs9274397, UniProt VAR 062705, ExAC rs9274397, gnomAD rs9274397, REVEL 0.06, CADD 0.01, Benign, in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04 an
- A81V (p.Ala81Val), rs41558214, UniProt VAR 062706, gnomAD rs41558214, REVEL 0.25, CADD 24.00, Benign, in allele DQB1*03:07
- P84L (p.Pro84Leu), rs9274395, UniProt VAR 062707, 1000Genomes rs9274395, ExAC rs9274395, REVEL 0.12, CADD 13.00, Benign, in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04 an
- L85Q (p.Leu85Gln), rs1140313, cosmic curated COSV66569, UniProt VAR 062708, 1000Genomes rs1140313, AlphaMissense 0.08, MetaLR 0.00, Benign, in allele DQB1*03:23, allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, a
- P87L (p.Pro87Leu), rs1130380, cosmic curated COSV10089, UniProt VAR 062709, UniProt VAR 062710, AlphaMissense 0.35, MetaLR 0.00, Benign, in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04 an
- P87Q (p.Pro87Gln), rs1130380, UniProt VAR 062710, AlphaMissense 0.35, MetaLR 0.00, Benign, in allele DQB1*03:16
- P87R (p.Pro87Arg), rs1130380, UniProt VAR 062711, AlphaMissense 0.35, MetaLR 0.00, Benign, in allele DQB1*03:23, allele DQB1*03:25, allele DQB1*04:01, allele DQB1*04:02, a
- P88L (p.Pro88Leu), rs1130381, cosmic curated COSV66574, UniProt VAR 062712, 1000Genomes rs1130381, REVEL 0.14, CADD 12.50, Benign, in allele DQB1*03:25, allele DQB1*04:01, allele DQB1*04:02 and allele DQB1*04:03
- D89A (p.Asp89Ala), rs1071637, cosmic curated COSV66572, UniProt VAR 062713, UniProt VAR 062715, REVEL 0.28, CADD 0.00, Benign, in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:04, allele DQB1*02:05, a
- D89S (p.Asp89Ser), UniProt VAR 062714, Benign, in allele DQB1*05:02, allele DQB1*05:04, allele DQB1*05:05, allele DQB1*06:10 an
- D89V (p.Asp89Val), rs1071637, UniProt VAR 062715, REVEL 0.27, CADD 0.00, Benign, in allele DQB1*05:01, allele DQB1*06:04, allele DQB1*06:05, allele DQB1*06:06, a
- Y92N (p.Tyr92Asn), rs41562414, UniProt VAR 062716, ExAC rs41562414, gnomAD rs41562414, REVEL 0.18, CADD 10.70, Benign, in allele DQB1*06:16
- N94K (p.Asn94Lys), rs1130382, UniProt VAR 062717, 1000Genomes rs1130382, ExAC rs1130382, REVEL 0.25, CADD 24.70, Benign, in allele DQB1*06:37
- S95R (p.Ser95Arg), rs41556215, UniProt VAR 062718, gnomAD rs41556215, REVEL 0.17, CADD 16.30, Benign, in allele DQB1*03:15
- E98D (p.Glu98Asp), rs9274390, cosmic curated COSV66569, UniProt VAR 062719, UniProt VAR 062721, REVEL 0.35, CADD 0.98, Benign, in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04, a
- V99D (p.Val99Asp), rs41563814, UniProt VAR 062720, 1000Genomes rs41563814, ExAC rs41563814, REVEL 0.17, CADD 22.60, Benign, in allele DQB1*03:13
- V99I (p.Val99Ile), rs9274390, REVEL 0.31, CADD 0.00
- R102E (p.Arg102Glu), UniProt VAR 062722, Benign, in allele DQB1*03:06, allele DQB1*03:25, allele DQB1*04:01, allele DQB1*04:02, a
- R102G (p.Arg102Gly), rs1130386, cosmic curated COSV66569, UniProt VAR 062723, 1000Genomes rs1130386, AlphaMissense 0.10, MetaLR 0.00, Benign, in allele DQB1*03:08, allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, a
- T103A (p.Thr103Ala), rs1130390, UniProt VAR 062724, 1000Genomes rs1130390, ESP rs1130390, REVEL 0.25, CADD 3.83, Benign, in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*05:05, a
- T103D (p.Thr103Asp), UniProt VAR 062725, Benign, in allele DQB1*03:06, allele DQB1*03:25, allele DQB1*04:01, allele DQB1*04:02, a
- T103K (p.Thr103Lys), UniProt VAR 062726, Benign, in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04 an
- E106A (p.Glu106Ala), rs1130387, cosmic curated COSV66569, UniProt VAR 062727, 1000Genomes rs1130387, REVEL 0.18, CADD 7.81, Benign, in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04, a
- E106S (p.Glu106Ser), UniProt VAR 062728, Benign, in allele DQB1*03:06, allele DQB1*03:25, allele DQB1*04:01, allele DQB1*04:02, a
- L107V (p.Leu107Val), rs9274384, cosmic curated COSV66571, UniProt VAR 062729, 1000Genomes rs9274384, REVEL 0.24, CADD 0.00, Benign, in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04, a
- T109R (p.Thr109Arg), rs1130392, cosmic curated COSV66569, UniProt VAR 062730, 1000Genomes rs1130392, REVEL 0.11, CADD 17.10, Benign, in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04, a
- Q116E (p.Gln116Glu), rs1140316, UniProt VAR 062731, 1000Genomes rs1140316, ExAC rs1140316, AlphaMissense 0.10, MetaLR 0.00, Benign, in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*05:05, a
- L117V (p.Leu117Val), rs1140317, cosmic curated COSV66569, UniProt VAR 062732, 1000Genomes rs1140317, AlphaMissense 0.16, MetaLR 0.00, Benign, in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*05:05, a
- E118A (p.Glu118Ala), rs9274380, cosmic curated COSV66570, UniProt VAR 062733, UniProt VAR 062734, AlphaMissense 0.22, MetaLR 0.00, Benign, in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*05:05, a
- E118G (p.Glu118Gly), rs9274380, AlphaMissense 0.22, MetaLR 0.00
- L119F (p.Leu119Phe), rs9274379, cosmic curated COSV66571, UniProt VAR 062735, 1000Genomes rs9274379, AlphaMissense 0.12, MetaLR 0.00, Benign, in allele DQB1*06:01, allele DQB1*06:02, allele DQB1*06:03, allele DQB1*06:08, a
- L119Y (p.Leu119Tyr), UniProt VAR 062736, Benign, in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*05:05, a
- T121G (p.Thr121Gly), UniProt VAR 062737, Benign, in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*05:05, a
- T122I (p.Thr122Ile), rs1140320, UniProt VAR 062738, 1000Genomes rs1140320, ExAC rs1140320, AlphaMissense 0.20, MetaLR 0.00, Benign, in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*05:05, a
- V148I (p.Val148Ile), rs1049100, UniProt VAR 056571, 1000Genomes rs1049100, ESP rs1049100, REVEL 0.12, CADD 19.30, Benign, in allele DQB1*05:01, allele DQB1*05:02 and allele DQB1*05:03
- A157G (p.Ala157Gly), rs1063322, UniProt VAR 062739, 1000Genomes rs1063322, ExAC rs1063322, AlphaMissense 0.09, MetaLR 0.00, Benign, in allele DQB1*06:01, allele DQB1*06:02, allele DQB1*06:03, allele DQB1*06:04, a
- A157S (p.Ala157Ser), UniProt VAR 062740, Benign, in allele DQB1*05:01, allele DQB1*05:02 and allele DQB1*05:03
- Q158H (p.Gln158His), rs41542812, cosmic curated COSV10971, UniProt VAR 062741, 1000Genomes rs41542812, REVEL 0.09, CADD 7.26, Benign, in allele DQB1*05:02
- R162Q (p.Arg162Gln), rs41544112, cosmic curated COSV66574, UniProt VAR 062742, 1000Genomes rs41544112, REVEL 0.06, CADD 10.80, Benign, in allele DQB1*03:22, allele DQB1*06:04, allele DQB1*06:09, allele DQB1*06:12, a
- R165Q (p.Arg165Gln), rs9273989, cosmic curated COSV10089, UniProt VAR 062744, ExAC rs9273989, REVEL 0.11, CADD 22.40, Benign, in allele DQB1*06:38
- R165W (p.Arg165Trp), rs63626961, cosmic curated COSV10531, UniProt VAR 062743, ExAC rs63626961, REVEL 0.12, CADD 23.80, Benign, in allele DQB1*03:21
- D167G (p.Asp167Gly), rs2647032, UniProt VAR 062745, 1000Genomes rs2647032, ExAC rs2647032, REVEL 0.19, CADD 2.42, Benign, in allele DQB1*02:02
- Q168E (p.Gln168Glu), rs9273981, UniProt VAR 062746, ExAC rs9273981, gnomAD rs9273981, REVEL 0.17, CADD 19.90, Benign, in allele DQB1*02:04
- T172A (p.Thr172Ala), rs1063323, cosmic curated COSV66571, UniProt VAR 062747, 1000Genomes rs1063323, AlphaMissense 0.08, MetaLR 0.00, Benign, in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:04, allele DQB1*05:01, a
- E194D (p.Glu194Asp), rs9273952, UniProt VAR 056572, Ensembl rs9273952, AlphaMissense 0.69, MetaLR 0.02
- P197L (p.Pro197Leu), rs9273948, UniProt VAR 059522, Ensembl rs9273948, REVEL 0.24, CADD 23.70
- H199R (p.His199Arg), rs701564, cosmic curated COSV66569, UniProt VAR 062748, 1000Genomes rs701564, AlphaMissense 0.07, MetaLR 0.00, Benign, in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:04, allele DQB1*03:02, a
- V202I (p.Val202Ile), rs80255621, cosmic curated COSV99059, UniProt VAR 062750, gnomAD rs80255621, REVEL 0.12, CADD 10.60, Benign, in allele DQB1*03:24
- N214S (p.Asn214Ser), rs1130398, cosmic curated COSV66572, UniProt VAR 062751, 1000Genomes rs1130398, AlphaMissense 0.09, MetaLR 0.00, Benign, in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:04, allele DQB1*05:01, a
- P215Q (p.Pro215Gln), gnomAD 6-32660863-TG-T, CADD 23.60
- P215P (p.Pro215Pro), rs1357224395, gnomAD 6-32660863-T-G, CADD 4.56
- P215L (p.Pro215Leu), gnomAD 6-32660864-G-A, CADD 22.40
- P215R (p.Pro215Arg), rs980470053, gnomAD 6-32660864-G-C, CADD 16.30
- P215T (p.Pro215Thr), gnomAD 6-32660865-G-T, CADD 16.00
- P215S (p.Pro215Ser), gnomAD 6-32660865-G-A, CADD 15.20
- P215A (p.Pro215Ala), gnomAD 6-32660865-G-C, CADD 12.40
- P215H (p.Pro215His), gnomAD 6-32660866-TG-T, CADD 22.70
- T217I (p.Thr217Ile), rs1130399, cosmic curated COSV66573, UniProt VAR 062752, 1000Genomes rs1130399, REVEL 0.01, CADD 14.40, Benign, in allele DQB1*03:02, allele DQB1*03:03, allele DQB1*03:05, allele DQB1*03:19, a
- V218A (p.Val218Ala), rs281864132, UniProt VAR 062753, gnomAD rs281864132, REVEL 0.18, CADD 23.90, Benign, in allele DQB1*06:36
- A227A (p.Ala227Ala), gnomAD 6-32660860-T-C, CADD 14.50
- A227V (p.Ala227Val), gnomAD 6-32660861-G-A, CADD 24.90
- A227E (p.Ala227Glu), gnomAD 6-32660861-G-T, CADD 20.60
- A227S (p.Ala227Ser), gnomAD 6-32660862-C-A, CADD 8.76
- A227T (p.Ala227Thr), rs1212363954, gnomAD 6-32660862-C-T, CADD 2.94
- S229N (p.Ser229Asn), rs1130429, cosmic curated COSV66571, UniProt VAR 062754, 1000Genomes rs1130429, REVEL 0.11, CADD 21.00, Benign, in allele DQB1*06:01
- I235V (p.Ile235Val), rs1049163, UniProt VAR 062755, 1000Genomes rs1049163, ExAC rs1049163, AlphaMissense 0.13, MetaLR 0.00, Benign, in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*06:02, a
- H252R (p.His252Arg), rs1140342, cosmic curated COSV66569, UniProt VAR 062756, 1000Genomes rs1140342, AlphaMissense 0.18, MetaLR 0.00, Benign, in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*06:01, a
- H253Q (p.His253Gln), rs1140343, cosmic curated COSV66569, UniProt VAR 062757, 1000Genomes rs1140343, AlphaMissense 0.07, MetaLR 0.00, Benign, in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*06:01, a
- Q256R (p.Gln256Arg), rs1130432, UniProt VAR 061474, 1000Genomes rs1130432, ESP rs1130432, REVEL 0.11, CADD 13.50, Benign, in allele DQB1*05:01, allele DQB1*05:02 and allele DQB1*05:03
- Q256H (p.Gln256His), gnomAD 6-32660875-T-A, CADD 1.25
- Q256Q (p.Gln256Gln), rs1782914689, gnomAD 6-32660875-T-C, CADD 2.63
- Q256K (p.Gln256Lys), gnomAD 6-32660876-TG-T, CADD 24.60
- G258G (p.Gly258Gly), gnomAD 6-32660248-C-A, CADD 5.51
- G258A (p.Gly258Ala), gnomAD 6-32660249-C-G, REVEL 0.13, CADD 23.30
- G258V (p.Gly258Val), gnomAD 6-32660249-C-A, REVEL 0.23, CADD 26.30
- G258E (p.Gly258Glu), rs1181850262, gnomAD 6-32660249-C-T, REVEL 0.21, CADD 25.20
- G258R (p.Gly258Arg), gnomAD 6-32660859-C-T, CADD 35.00
- G258W (p.Gly258Trp), gnomAD 6-32660859-C-A, CADD 35.00
- L259L (p.Leu259Leu), rs1140347, gnomAD 6-32660245-A-G, CADD 6.00
- L259P (p.Leu259Pro), rs1387826523, gnomAD 6-32660246-A-G, REVEL 0.14, CADD 24.60
- L259V (p.Leu259Val), gnomAD 6-32660247-G-C, REVEL 0.10, CADD 22.60
- L259F (p.Leu259Phe), rs1782853786, gnomAD 6-32660247-G-A, REVEL 0.12, CADD 23.00
- L259I (p.Leu259Ile), gnomAD 6-32660247-G-T, REVEL 0.11, CADD 22.40
- L260L (p.Leu260Leu), gnomAD 6-32660242-C-G, CADD 4.54
- L260Q (p.Leu260Gln), gnomAD 6-32660243-A-T, REVEL 0.12, CADD 23.40
- L260R (p.Leu260Arg), rs1251210368, gnomAD 6-32660243-A-C, REVEL 0.13, CADD 23.40
- L260P (p.Leu260Pro), gnomAD 6-32660243-A-G, REVEL 0.15, CADD 23.60
- L260M (p.Leu260Met), gnomAD 6-32660244-G-T, REVEL 0.11, CADD 23.30
- L260C (p.Leu260Cys), gnomAD 6-32660244-GA-G, CADD 24.60
- H261Q (p.His261Gln), rs1195009672, gnomAD 6-32660239-G-T, REVEL 0.13, CADD 17.50
- H261H (p.His261His), gnomAD 6-32660239-G-A, CADD 4.02
- H261R (p.His261Arg), gnomAD 6-32660240-T-C, REVEL 0.14, CADD 19.40
- H261L (p.His261Leu), gnomAD 6-32660240-T-A, REVEL 0.13, CADD 21.30
- H261P (p.His261Pro), gnomAD 6-32660240-T-G, REVEL 0.16, CADD 21.50
- H261N (p.His261Asn), gnomAD 6-32660241-G-T, REVEL 0.12, CADD 21.70
- H261D (p.His261Asp), rs776366076, gnomAD 6-32660241-G-C, REVEL 0.13, CADD 22.90
- H261Y (p.His261Tyr), rs776366076, gnomAD 6-32660241-G-A, REVEL 0.12, CADD 23.80
Public HLA-DQB1 analysis runs
- HLA-DQB1 analysis run — HLA-DQB1 (133 variants) — completed 2026-08-19