rs1999628

Homo sapiens
T>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0088 (2638/29944,GnomAD)
A=0067 (1959/29118,TOPMED)
A=0131 (656/5008,1000G)
A=0114 (441/3854,ALSPAC)
A=0122 (451/3708,TWINSUK)
chr10:119457549 (GRCh38.p7) (10q26.11)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.119457549T>A
GRCh37.p13 chr 10NC_000010.10:g.121217061T>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.998A=0.002
1000GenomesAmericanSub694T=0.890A=0.110
1000GenomesEast AsianSub1008T=0.700A=0.300
1000GenomesEuropeSub1006T=0.911A=0.089
1000GenomesGlobalStudy-wide5008T=0.869A=0.131
1000GenomesSouth AsianSub978T=0.810A=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.886A=0.114
The Genome Aggregation DatabaseAfricanSub8728T=0.977A=0.023
The Genome Aggregation DatabaseAmericanSub838T=0.900A=0.100
The Genome Aggregation DatabaseEast AsianSub1618T=0.717A=0.283
The Genome Aggregation DatabaseEuropeSub18460T=0.898A=0.101
The Genome Aggregation DatabaseGlobalStudy-wide29944T=0.911A=0.088
The Genome Aggregation DatabaseOtherSub300T=0.920A=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.932A=0.067
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.878A=0.122
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
rs19996280.00013alcohol dependence20201924

eQTL of rs1999628 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 rs1999628 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 )
chr10121253817121254967E06736756
chr10121254976121255070E06737915
chr10121254976121255070E06837915
chr10121253817121254967E06936756
chr10121181127121182266E070-34795
chr10121182308121182358E070-34703
chr10121182435121182619E070-34442
chr10121253495121253632E07036434
chr10121253817121254967E07036756
chr10121254976121255070E07037915
chr10121255100121255301E07038039
chr10121181127121182266E071-34795
chr10121253817121254967E07136756
chr10121184179121184232E072-32829
chr10121184286121184497E072-32564
chr10121184502121184576E072-32485
chr10121184598121184658E072-32403
chr10121253495121253632E07236434
chr10121253817121254967E07236756
chr10121171630121174291E073-42770
chr10121248829121249663E07431768
chr10121171630121174291E081-42770
chr10121249761121250077E08132700
chr10121251459121252290E08134398
chr10121263230121263284E08246169