rs17200717

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0176 (5275/29968,GnomAD)
C=0150 (4384/29118,TOPMED)
C=0180 (901/5008,1000G)
C=0213 (822/3854,ALSPAC)
C=0206 (765/3708,TWINSUK)
chr12:76683318 (GRCh38.p7) (12q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
25 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.76683318T>C
GRCh37.p13 chr 12NC_000012.11:g.77077098T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.951C=0.049
1000GenomesAmericanSub694T=0.830C=0.170
1000GenomesEast AsianSub1008T=0.770C=0.230
1000GenomesEuropeSub1006T=0.759C=0.241
1000GenomesGlobalStudy-wide5008T=0.820C=0.180
1000GenomesSouth AsianSub978T=0.750C=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.787C=0.213
The Genome Aggregation DatabaseAfricanSub8732T=0.926C=0.074
The Genome Aggregation DatabaseAmericanSub838T=0.850C=0.150
The Genome Aggregation DatabaseEast AsianSub1618T=0.781C=0.219
The Genome Aggregation DatabaseEuropeSub18478T=0.780C=0.219
The Genome Aggregation DatabaseGlobalStudy-wide29968T=0.824C=0.176
The Genome Aggregation DatabaseOtherSub302T=0.710C=0.290
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.849C=0.150
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.794C=0.206
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs172007170.000398alcohol dependence21314694

eQTL of rs17200717 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 rs17200717 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 )
chr127707890977079514E0671811
chr127706079377060862E068-16236
chr127709172077091973E06814622
chr127709198677092036E06814888
chr127709222477092355E06815126
chr127711256277112700E06835464
chr127711271177112920E06835613
chr127711302977113309E06835931
chr127705978377060598E069-16500
chr127705940577059782E070-17316
chr127705978377060598E070-16500
chr127706079377060862E070-16236
chr127706079377060862E071-16236
chr127710688577107015E07129787
chr127710705377107179E07129955
chr127706079377060862E072-16236
chr127707890977079514E0721811
chr127705978377060598E074-16500
chr127706079377060862E074-16236
chr127707890977079514E0811811
chr127708149677082160E0814398
chr127702980477030723E082-46375
chr127705940577059782E082-17316
chr127705978377060598E082-16500
chr127707890977079514E0821811