{{Rsnum
|rsid=3130690
|Chromosome=6
|position=31318158
|Orientation=minus
|GMAF=0.1157
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 1.9 | 0.0 | 98.1
| HCB | 2.6 | 0.0 | 97.4
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 2.6 | 0.0 | 97.4
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{omim
|desc=SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO
|id=608579
|rsnum=3130690
}}

{{PharmGKB
|RSID=rs3130690
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:16538176
|Annotation=Risk or phenotype-associated allele: T allele. Phenotype: The T allele of rs3130690 (36 kb telomeric to HLA-B), which is strongly associated with the HLA-B*1502 allele, shows strong association with carbamazepine (CBZ)-induced Stevens-Johnson syndrome (SJS)/Toxic Epidermal Necrolysis (TEN, Lyell's syndrome) (OR = 254.6 for TT/TG genotype versus GG genotype; T allele only: p = 4.66x10(-42), Pc = 1.29x10(-39), OR = 45.65). Also, an extended haplotype with rs3130690 T, HLA-B*1502, and other alleles of major histocompatibility complex genes (A*1101-Cw*0801-HLABC-CA*119-rs3130690T-B*1502-MICA*019-DRB1*1202) was in strong association with CBZ-induced SJS/TEN. Study size: 204. Study population/ethnicity: 60 CBZ-induced SJS/TEN cases and 144 CBZ-tolerant controls of Chinese descent. Significance metric(s): CBZ-SJS/TEN with rs3130690 T allele (Pc = 1.29&#215;10(-39)); CBZ-SJS/TEN with HLA-B*1502 allele (Pc = 1.6&#215;10(-41), OR = 1357). Type of association: GN; PD; TOX; ADR.
|Drugs=carbamazepine
|Drug Classes=
|Diseases=Drug Hypersensitivity; Epidermal Necrolysis, Toxic; Stevens-Johnson Syndrome
|Curation Level=Curated
|PharmGKB Accession ID=PA165291956
}}

{{PharmGKB
|RSID=rs3130690
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:16538176
|Annotation=The T allele of this SNP has been associated with developmont of Stevens-Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN) in Chinese populations in response to carbamazepine treatment.
|Drugs=carbamazepine
|Drug Classes=
|Diseases=Epidermal Necrolysis, Toxic; Stevens-Johnson Syndrome
|Curation Level=Curated
|PharmGKB Accession ID=PA162316740
}}

{{PharmGKB
|RSID=rs3130690
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:16538176; Web Resource:http://www.fda.gov/cder/drug/InfoSheets/HCP/carbamazepineHCP.htm
|Annotation=This variant is associated with severe adverse reactions (Stevens Johnson syndrome and toxic epidermal necrolysis) of carbamazepine therapy.
|Drugs=carbamazepine
|Drug Classes=
|Diseases=Bipolar Disorder; Epidermal Necrolysis, Toxic; Epilepsy; Stevens-Johnson Syndrome
|Curation Level=Curated
|PharmGKB Accession ID=PA162263520
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3130690
|overall_frequency_n=16
|overall_frequency_d=122
|overall_frequency=0.131148
|n_genomes=12
|n_genomes_annotated=0
|n_haplomes=15
|n_articles=1
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}