rs619671

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0273 (8171/29842,GnomAD)
T=0319 (9305/29118,TOPMED)
T=0315 (1579/5008,1000G)
T=0221 (850/3854,ALSPAC)
T=0213 (789/3708,TWINSUK)
chr18:11961190 (GRCh38.p7) (18p11.21)
AD
GWASdb2
1   publication(s)
See rs on genome
46 Enhancers around
15 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.11961190C>T
GRCh37.p13 chr 18NC_000018.9:g.11961189C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.567T=0.433
1000GenomesAmericanSub694C=0.840T=0.160
1000GenomesEast AsianSub1008C=0.694T=0.306
1000GenomesEuropeSub1006C=0.809T=0.191
1000GenomesGlobalStudy-wide5008C=0.685T=0.315
1000GenomesSouth AsianSub978C=0.600T=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.779T=0.221
The Genome Aggregation DatabaseAfricanSub8676C=0.586T=0.414
The Genome Aggregation DatabaseAmericanSub836C=0.840T=0.160
The Genome Aggregation DatabaseEast AsianSub1618C=0.740T=0.260
The Genome Aggregation DatabaseEuropeSub18410C=0.784T=0.215
The Genome Aggregation DatabaseGlobalStudy-wide29842C=0.726T=0.273
The Genome Aggregation DatabaseOtherSub302C=0.800T=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.680T=0.319
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.787T=0.213
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
rs6196710.00089alcohol dependence20201924

eQTL of rs619671 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 rs619671 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 )
chr181196275411962961E0671565
chr181196306811963176E0671879
chr181199417211996346E06732983
chr181195434411954832E068-6357
chr181195485311955116E068-6073
chr181195517011955236E068-5953
chr181195526511956010E068-5179
chr181199417211996346E06832983
chr181195485311955116E070-6073
chr181195517011955236E070-5953
chr181195526511956010E070-5179
chr181198686311986913E07025674
chr181199700711997225E07035818
chr181199732011997389E07036131
chr181199768111997764E07036492
chr181199781511997880E07036626
chr181199796311998007E07036774
chr181199811311998163E07036924
chr181199824311998534E07037054
chr181199861711998676E07037428
chr181199953911999650E07038350
chr181199978111999835E07038592
chr181195434411954832E071-6357
chr181195485311955116E071-6073
chr181195517011955236E071-5953
chr181195526511956010E071-5179
chr181196275411962961E0711565
chr181196306811963176E0711879
chr181199417211996346E07132983
chr181199635311996452E07135164
chr181199655611996606E07135367
chr181199662611996775E07135437
chr181199686111996981E07135672
chr181199700711997225E07135818
chr181199732011997389E07136131
chr181199768111997764E07136492
chr181199781511997880E07136626
chr181199796311998007E07136774
chr181199811311998163E07136924
chr181199824311998534E07137054
chr181199417211996346E07232983
chr181199417211996346E07332983
chr181195526511956010E074-5179
chr181199905211999127E08237863
chr181199953911999650E08238350
chr181199978111999835E08238592








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr181194605311948381E067-12808
chr181197988711982541E06718698
chr181194605311948381E068-12808
chr181197988711982541E06818698
chr181194605311948381E069-12808
chr181197988711982541E06918698
chr181197988711982541E07018698
chr181194605311948381E071-12808
chr181197988711982541E07118698
chr181197988711982541E07218698
chr181194605311948381E073-12808
chr181197988711982541E07318698
chr181194605311948381E074-12808
chr181197988711982541E07418698
chr181197988711982541E08218698