rs1998008

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0462 (13820/29904,GnomAD)
C=0463 (13490/29118,TOPMED)
C=0435 (2180/5008,1000G)
C=0477 (1840/3854,ALSPAC)
C=0484 (1793/3708,TWINSUK)
chr1:115037919 (GRCh38.p7) (1p13.2)
AD
GWASdb2
2   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.115037919A>C
GRCh37.p13 chr 1NC_000001.10:g.115580540A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.555C=0.445
1000GenomesAmericanSub694A=0.590C=0.410
1000GenomesEast AsianSub1008A=0.470C=0.530
1000GenomesEuropeSub1006A=0.546C=0.454
1000GenomesGlobalStudy-wide5008A=0.565C=0.435
1000GenomesSouth AsianSub978A=0.680C=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.523C=0.477
The Genome Aggregation DatabaseAfricanSub8698A=0.576C=0.424
The Genome Aggregation DatabaseAmericanSub836A=0.570C=0.430
The Genome Aggregation DatabaseEast AsianSub1606A=0.502C=0.498
The Genome Aggregation DatabaseEuropeSub18464A=0.522C=0.477
The Genome Aggregation DatabaseGlobalStudy-wide29904A=0.537C=0.462
The Genome Aggregation DatabaseOtherSub300A=0.460C=0.540
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.536C=0.463
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.516C=0.484
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res
24086368An epistatic interaction between the PAX8 and STK17B genes in papillary thyroid cancer susceptibility.Landa IPLoS One

P-Value

SNP ID p-value Traits Study
rs19980081.94E-05alcohol consumption23953852

eQTL of rs1998008 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:115580540TSPAN2ENSG00000134198.5A>C5.2445e-13-51581Cerebellum

meQTL of rs1998008 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 )
chr1115626112115626259E06845572
chr1115626562115626666E06846022
chr1115598948115599450E07218408
chr1115628351115628391E08147811