rs2216506

Homo sapiens
T>C
SRBD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0205 (6139/29950,GnomAD)
T==0171 (4994/29116,TOPMED)
T==0251 (1258/5008,1000G)
T==0230 (886/3854,ALSPAC)
T==0220 (815/3708,TWINSUK)
chr2:45408326 (GRCh38.p7) (2p21)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.45408326T>C
GRCh37.p13 chr 2NC_000002.11:g.45635465T>C

Gene: SRBD1, S1 RNA binding domain 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SRBD1 transcriptNM_018079.4:c.N/AIntron Variant
SRBD1 transcript variant X1XM_011532946.1:c.N/AIntron Variant
SRBD1 transcript variant X7XM_017004418.1:c.N/AIntron Variant
SRBD1 transcript variant X3XM_017004417.1:c.N/AGenic Downstream Transcript Variant
SRBD1 transcript variant X2XR_001738804.1:n.N/AIntron Variant
SRBD1 transcript variant X4XR_001738805.1:n.N/AIntron Variant
SRBD1 transcript variant X6XR_001738806.1:n.N/AIntron Variant
SRBD1 transcript variant X5XR_939693.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.042C=0.958
1000GenomesAmericanSub694T=0.220C=0.780
1000GenomesEast AsianSub1008T=0.532C=0.468
1000GenomesEuropeSub1006T=0.230C=0.770
1000GenomesGlobalStudy-wide5008T=0.251C=0.749
1000GenomesSouth AsianSub978T=0.290C=0.710
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.230C=0.770
The Genome Aggregation DatabaseAfricanSub8728T=0.079C=0.921
The Genome Aggregation DatabaseAmericanSub836T=0.260C=0.740
The Genome Aggregation DatabaseEast AsianSub1614T=0.594C=0.406
The Genome Aggregation DatabaseEuropeSub18470T=0.227C=0.772
The Genome Aggregation DatabaseGlobalStudy-wide29950T=0.205C=0.795
The Genome Aggregation DatabaseOtherSub302T=0.250C=0.750
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.171C=0.828
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.220C=0.780
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs22165060.00087alcohol dependence20201924

eQTL of rs2216506 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs2216506 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr24567787545678103E06942410
chr24566067645660933E07425211
chr24567787545678103E07442410
chr24567821245678285E07442747