rs2099269

Homo sapiens
G>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0332 (9937/29876,GnomAD)
T=0317 (9244/29118,TOPMED)
T=0310 (1551/5008,1000G)
T=0400 (1540/3854,ALSPAC)
T=0426 (1581/3708,TWINSUK)
chr12:127775035 (GRCh38.p7) (12q24.32)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.127775035G>T
GRCh37.p13 chr 12NC_000012.11:g.128259580G>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.864T=0.136
1000GenomesAmericanSub694G=0.690T=0.310
1000GenomesEast AsianSub1008G=0.675T=0.325
1000GenomesEuropeSub1006G=0.629T=0.371
1000GenomesGlobalStudy-wide5008G=0.690T=0.310
1000GenomesSouth AsianSub978G=0.530T=0.470
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.600T=0.400
The Genome Aggregation DatabaseAfricanSub8706G=0.821T=0.179
The Genome Aggregation DatabaseAmericanSub832G=0.680T=0.320
The Genome Aggregation DatabaseEast AsianSub1618G=0.649T=0.351
The Genome Aggregation DatabaseEuropeSub18420G=0.598T=0.401
The Genome Aggregation DatabaseGlobalStudy-wide29876G=0.667T=0.332
The Genome Aggregation DatabaseOtherSub300G=0.510T=0.490
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.682T=0.317
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.574T=0.426
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
rs20992690.000742alcohol consumption (maxi-drinks)24277619

eQTL of rs2099269 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 rs2099269 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 )
chr12128288242128288359E06728662
chr12128293670128294300E06734090
chr12128294377128294499E06734797
chr12128294581128295159E06735001
chr12128288086128288187E06828506
chr12128288242128288359E06828662
chr12128293670128294300E06834090
chr12128294377128294499E06834797
chr12128294581128295159E06835001
chr12128295166128295337E06835586
chr12128307387128307966E06847807
chr12128256388128256447E069-3133
chr12128256890128256940E069-2640
chr12128256978128257050E069-2530
chr12128293670128294300E06934090
chr12128296384128297200E06936804
chr12128296384128297200E07036804
chr12128288086128288187E07128506
chr12128288242128288359E07128662
chr12128293670128294300E07134090
chr12128294377128294499E07134797
chr12128294581128295159E07135001
chr12128295166128295337E07135586
chr12128246968128247018E072-12562
chr12128288086128288187E07228506
chr12128288242128288359E07228662
chr12128293670128294300E07234090
chr12128294377128294499E07234797
chr12128294581128295159E07235001
chr12128303762128303897E07244182
chr12128304074128304255E07244494
chr12128304427128304471E07244847
chr12128256890128256940E073-2640
chr12128256978128257050E073-2530
chr12128258526128258620E073-960
chr12128258991128259059E073-521
chr12128259363128259417E073-163
chr12128259447128259501E073-79
chr12128259724128259764E073144
chr12128252285128252647E074-6933
chr12128256890128256940E074-2640
chr12128256978128257050E074-2530
chr12128270625128270694E07411045
chr12128270777128270876E07411197
chr12128288086128288187E07428506
chr12128288242128288359E07428662
chr12128293670128294300E07434090
chr12128294377128294499E07434797
chr12128294581128295159E07435001
chr12128229735128229785E081-29795
chr12128230087128230709E081-28871
chr12128230884128230954E081-28626
chr12128232277128232327E081-27253
chr12128232347128232425E081-27155
chr12128232566128232798E081-26782
chr12128272262128272328E08112682
chr12128274983128275253E08115403
chr12128275369128275445E08115789
chr12128275502128275692E08115922
chr12128275950128276089E08116370
chr12128215716128215779E082-43801
chr12128215800128215965E082-43615
chr12128230087128230709E082-28871
chr12128230884128230954E082-28626
chr12128231138128231693E082-27887
chr12128232566128232798E082-26782
chr12128270175128270446E08210595