rs1993757

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0026 (808/29986,GnomAD)
T=0014 (409/29118,TOPMED)
T=0087 (436/5008,1000G)
T=0002 (9/3854,ALSPAC)
T=0002 (8/3708,TWINSUK)
chr12:129989920 (GRCh38.p7) (12q24.33)
AD
GWASdb2
1   publication(s)
See rs on genome
40 Enhancers around
15 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.129989920C>T
GRCh37.p13 chr 12NC_000012.11:g.130474465C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.998T=0.002
1000GenomesAmericanSub694C=0.820T=0.180
1000GenomesEast AsianSub1008C=0.812T=0.188
1000GenomesEuropeSub1006C=0.987T=0.013
1000GenomesGlobalStudy-wide5008C=0.913T=0.087
1000GenomesSouth AsianSub978C=0.890T=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.998T=0.002
The Genome Aggregation DatabaseAfricanSub8728C=0.995T=0.005
The Genome Aggregation DatabaseAmericanSub838C=0.850T=0.150
The Genome Aggregation DatabaseEast AsianSub1614C=0.797T=0.203
The Genome Aggregation DatabaseEuropeSub18504C=0.983T=0.016
The Genome Aggregation DatabaseGlobalStudy-wide29986C=0.973T=0.026
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.986T=0.014
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.998T=0.002
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs19937578.01E-23alcohol consumptionpha001400
rs19937572.02E-19alcohol consumptionpha001402

eQTL of rs1993757 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 rs1993757 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 )
chr12130433869130433945E067-40520
chr12130434242130434292E067-40173
chr12130499047130499444E06724582
chr12130499490130499540E06725025
chr12130437898130438038E068-36427
chr12130433869130433945E069-40520
chr12130437418130437468E069-36997
chr12130437898130438038E069-36427
chr12130499490130499540E06925025
chr12130501331130501470E07026866
chr12130501490130501544E07027025
chr12130503276130503326E07028811
chr12130433869130433945E071-40520
chr12130437418130437468E071-36997
chr12130499490130499540E07125025
chr12130500776130500928E07126311
chr12130500931130501046E07126466
chr12130501331130501470E07126866
chr12130501490130501544E07127025
chr12130503276130503326E07128811
chr12130503418130503472E07128953
chr12130503510130503550E07129045
chr12130516160130516442E07141695
chr12130433869130433945E072-40520
chr12130434242130434292E072-40173
chr12130434344130434681E072-39784
chr12130501331130501470E07226866
chr12130501490130501544E07227025
chr12130503276130503326E07228811
chr12130503418130503472E07228953
chr12130503510130503550E07229045
chr12130434242130434292E074-40173
chr12130434344130434681E074-39784
chr12130501331130501470E07426866
chr12130501490130501544E07427025
chr12130487274130487324E08112809
chr12130494384130494475E08119919
chr12130499047130499444E08124582
chr12130487042130487222E08212577
chr12130487274130487324E08212809









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12130498289130498976E06723824
chr12130501931130503094E06727466
chr12130498289130498976E06823824
chr12130501931130503094E06827466
chr12130498289130498976E06923824
chr12130501931130503094E06927466
chr12130501931130503094E07027466
chr12130498289130498976E07123824
chr12130501931130503094E07127466
chr12130498289130498976E07223824
chr12130501931130503094E07227466
chr12130498289130498976E07323824
chr12130501931130503094E07327466
chr12130501931130503094E07427466
chr12130501931130503094E08227466