rs2128345

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
A==0198 (5940/29942,GnomAD)
A==0215 (6275/29118,TOPMED)
A==0179 (894/5008,1000G)
A==0157 (606/3854,ALSPAC)
A==0177 (658/3708,TWINSUK)
chr21:20713530 (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.20713530A>G
GRCh37.p13 chr 21NC_000021.8:g.22085847A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.341G=0.659
1000GenomesAmericanSub694A=0.160G=0.840
1000GenomesEast AsianSub1008A=0.063G=0.937
1000GenomesEuropeSub1006A=0.166G=0.834
1000GenomesGlobalStudy-wide5008A=0.179G=0.821
1000GenomesSouth AsianSub978A=0.110G=0.890
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.157G=0.843
The Genome Aggregation DatabaseAfricanSub8700A=0.294G=0.706
The Genome Aggregation DatabaseAmericanSub838A=0.110G=0.890
The Genome Aggregation DatabaseEast AsianSub1616A=0.055G=0.945
The Genome Aggregation DatabaseEuropeSub18488A=0.171G=0.828
The Genome Aggregation DatabaseGlobalStudy-wide29942A=0.198G=0.801
The Genome Aggregation DatabaseOtherSub300A=0.140G=0.860
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.215G=0.784
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.177G=0.823
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
rs21283458.48E-05alcohol consumption23743675

eQTL of rs2128345 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 rs2128345 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 )
chr212210684322106990E06720996
chr212210842522108506E06722578
chr212210926622109361E06723419
chr212210926622109361E06823419
chr212210941722109555E06823570
chr212210976622109877E06823919
chr212210991522110206E06824068
chr212210842522108506E06922578
chr212210864922108754E06922802
chr212210926622109361E06923419
chr212210941722109555E06923570
chr212207525122075412E070-10435
chr212207585422076066E070-9781
chr212210738722107450E07021540
chr212210773222107777E07021885
chr212210792222108038E07022075
chr212210926622109361E07023419
chr212210941722109555E07023570
chr212210976622109877E07023919
chr212210991522110206E07024068
chr212211230022112353E07026453
chr212210738722107450E07121540
chr212210773222107777E07121885
chr212210792222108038E07122075
chr212210842522108506E07122578
chr212210864922108754E07122802
chr212210926622109361E07123419
chr212210976622109877E07123919
chr212210991522110206E07124068
chr212210738722107450E07221540
chr212210773222107777E07221885
chr212210792222108038E07222075
chr212210842522108506E07222578
chr212210864922108754E07222802
chr212210661422106677E07420767
chr212210684322106990E07420996
chr212210738722107450E07421540
chr212210773222107777E07421885
chr212210792222108038E07422075
chr212210842522108506E07422578
chr212210864922108754E07422802
chr212210926622109361E07423419
chr212210991522110206E07424068
chr212210941722109555E08123570
chr212210976622109877E08123919
chr212210991522110206E08124068