rs229369

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
G==0116 (3497/29992,GnomAD)
G==0095 (2781/29118,TOPMED)
G==0102 (510/5008,1000G)
G==0139 (534/3854,ALSPAC)
G==0157 (584/3708,TWINSUK)
chr21:20706272 (GRCh38.p7) (21q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
46 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.20706272G>A
GRCh37.p13 chr 21NC_000021.8:g.22078587G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.053A=0.947
1000GenomesAmericanSub694G=0.120A=0.880
1000GenomesEast AsianSub1008G=0.069A=0.931
1000GenomesEuropeSub1006G=0.150A=0.850
1000GenomesGlobalStudy-wide5008G=0.102A=0.898
1000GenomesSouth AsianSub978G=0.140A=0.860
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.139A=0.861
The Genome Aggregation DatabaseAfricanSub8732G=0.071A=0.929
The Genome Aggregation DatabaseAmericanSub838G=0.090A=0.910
The Genome Aggregation DatabaseEast AsianSub1622G=0.064A=0.936
The Genome Aggregation DatabaseEuropeSub18498G=0.144A=0.855
The Genome Aggregation DatabaseGlobalStudy-wide29992G=0.116A=0.883
The Genome Aggregation DatabaseOtherSub302G=0.100A=0.900
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.095A=0.904
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.157A=0.843
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs2293692.87E-05alcohol consumption23743675

eQTL of rs229369 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 rs229369 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 )
chr212210684322106990E06728256
chr212210842522108506E06729838
chr212210926622109361E06730679
chr212210926622109361E06830679
chr212210941722109555E06830830
chr212210976622109877E06831179
chr212210991522110206E06831328
chr212210842522108506E06929838
chr212210864922108754E06930062
chr212210926622109361E06930679
chr212210941722109555E06930830
chr212207525122075412E070-3175
chr212207585422076066E070-2521
chr212210738722107450E07028800
chr212210773222107777E07029145
chr212210792222108038E07029335
chr212210926622109361E07030679
chr212210941722109555E07030830
chr212210976622109877E07031179
chr212210991522110206E07031328
chr212211230022112353E07033713
chr212210738722107450E07128800
chr212210773222107777E07129145
chr212210792222108038E07129335
chr212210842522108506E07129838
chr212210864922108754E07130062
chr212210926622109361E07130679
chr212210976622109877E07131179
chr212210991522110206E07131328
chr212210738722107450E07228800
chr212210773222107777E07229145
chr212210792222108038E07229335
chr212210842522108506E07229838
chr212210864922108754E07230062
chr212210661422106677E07428027
chr212210684322106990E07428256
chr212210738722107450E07428800
chr212210773222107777E07429145
chr212210792222108038E07429335
chr212210842522108506E07429838
chr212210864922108754E07430062
chr212210926622109361E07430679
chr212210991522110206E07431328
chr212210941722109555E08130830
chr212210976622109877E08131179
chr212210991522110206E08131328