rs1860275

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0185 (5540/29924,GnomAD)
A=0180 (5260/29118,TOPMED)
A=0177 (886/5008,1000G)
A=0193 (744/3854,ALSPAC)
A=0206 (762/3708,TWINSUK)
chr17:34533630 (GRCh38.p7) (17q12)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.34533630G>A
GRCh37.p13 chr 17NC_000017.10:g.32860649G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.868A=0.132
1000GenomesAmericanSub694G=0.790A=0.210
1000GenomesEast AsianSub1008G=0.792A=0.208
1000GenomesEuropeSub1006G=0.809A=0.191
1000GenomesGlobalStudy-wide5008G=0.823A=0.177
1000GenomesSouth AsianSub978G=0.840A=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.807A=0.193
The Genome Aggregation DatabaseAfricanSub8708G=0.827A=0.173
The Genome Aggregation DatabaseAmericanSub838G=0.800A=0.200
The Genome Aggregation DatabaseEast AsianSub1614G=0.769A=0.231
The Genome Aggregation DatabaseEuropeSub18462G=0.813A=0.186
The Genome Aggregation DatabaseGlobalStudy-wide29924G=0.814A=0.185
The Genome Aggregation DatabaseOtherSub302G=0.830A=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.819A=0.180
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.794A=0.206
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs18602750.000721alcohol dependence24277619

eQTL of rs1860275 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 rs1860275 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 )
chr173283055832830608E068-30041
chr173285982332859923E068-726
chr173286011632860175E068-474
chr173287705032877304E07016401
chr173288036232880423E07019713
chr173288051932880559E07019870
chr173288068932880774E07020040
chr173288080832880990E07020159
chr173288101532881203E07020366
chr173288123332881328E07020584
chr173288204232882138E07021393
chr173288288632883017E07022237
chr173288313432883184E07022485
chr173288404732884239E07023398
chr173289831532898365E07037666
chr173289853232898582E07037883
chr173289858632898636E07037937
chr173289879432899069E07038145
chr173290481632904895E07044167
chr173289831532898365E07137666
chr173289449932894587E07233850
chr173289546132895528E07234812
chr173289449932894587E07333850
chr173289466232894712E07334013
chr173289479532895046E07334146
chr173289559732895669E07334948
chr173289568132895799E07335032
chr173290446432904670E07343815
chr173290481632904895E07344167
chr173289831532898365E07437666
chr173289853232898582E07437883
chr173289858632898636E07437937
chr173288385232883989E08123203
chr173288404732884239E08123398
chr173289546132895528E08134812
chr173288385232883989E08223203
chr173288404732884239E08223398
chr173289853232898582E08237883
chr173289858632898636E08237937








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr173290520832906994E06744559
chr173290704232908479E06746393
chr173290852432908636E06747875
chr173290865732908874E06748008
chr173290893032909140E06748281
chr173290520832906994E06844559
chr173290704232908479E06846393
chr173290852432908636E06847875
chr173290865732908874E06848008
chr173290893032909140E06848281
chr173290520832906994E06944559
chr173290852432908636E06947875
chr173290865732908874E06948008
chr173290893032909140E06948281
chr173290520832906994E07044559
chr173290520832906994E07144559
chr173290852432908636E07147875
chr173290865732908874E07148008
chr173290893032909140E07148281
chr173290520832906994E07244559
chr173290704232908479E07246393
chr173290852432908636E07247875
chr173290865732908874E07248008
chr173290893032909140E07248281
chr173290520832906994E07344559
chr173290704232908479E07346393
chr173290852432908636E07347875
chr173290865732908874E07348008
chr173290893032909140E07348281
chr173290520832906994E07444559
chr173290704232908479E07446393
chr173290852432908636E07447875
chr173290865732908874E07448008
chr173290520832906994E08244559
chr173290852432908636E08247875