rs2200019

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0304 (9099/29848,GnomAD)
T=0316 (9222/29118,TOPMED)
T=0291 (1456/5008,1000G)
T=0313 (1207/3854,ALSPAC)
T=0317 (1177/3708,TWINSUK)
chr3:99377052 (GRCh38.p7) (3q12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.99377052C>T
GRCh37.p13 chr 3NC_000003.11:g.99095896C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.686T=0.314
1000GenomesAmericanSub694C=0.690T=0.310
1000GenomesEast AsianSub1008C=0.767T=0.233
1000GenomesEuropeSub1006C=0.719T=0.281
1000GenomesGlobalStudy-wide5008C=0.709T=0.291
1000GenomesSouth AsianSub978C=0.680T=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.687T=0.313
The Genome Aggregation DatabaseAfricanSub8666C=0.664T=0.336
The Genome Aggregation DatabaseAmericanSub838C=0.720T=0.280
The Genome Aggregation DatabaseEast AsianSub1608C=0.791T=0.209
The Genome Aggregation DatabaseEuropeSub18434C=0.697T=0.302
The Genome Aggregation DatabaseGlobalStudy-wide29848C=0.695T=0.304
The Genome Aggregation DatabaseOtherSub302C=0.880T=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.683T=0.316
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.683T=0.317
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
rs22000190.00041alcohol dependence20201924

eQTL of rs2200019 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr3:99095896ST3GAL6-AS1ENSG00000239445.1C>T8.7178e-11644401Cerebellum

meQTL of rs2200019 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.