rs1251207

Homo sapiens
G>T
None
Check p-value
SNV (Single Nucleotide Variation)
G==0286 (8558/29840,GnomAD)
G==0336 (9793/29118,TOPMED)
G==0356 (1785/5008,1000G)
G==0193 (743/3854,ALSPAC)
G==0183 (679/3708,TWINSUK)
chr2:129224299 (GRCh38.p7) (2q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.129224299G>T
GRCh37.p13 chr 2NC_000002.11:g.129981872G>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.632T=0.368
1000GenomesAmericanSub694G=0.200T=0.800
1000GenomesEast AsianSub1008G=0.250T=0.750
1000GenomesEuropeSub1006G=0.184T=0.816
1000GenomesGlobalStudy-wide5008G=0.356T=0.644
1000GenomesSouth AsianSub978G=0.380T=0.620
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.193T=0.807
The Genome Aggregation DatabaseAfricanSub8684G=0.517T=0.483
The Genome Aggregation DatabaseAmericanSub834G=0.210T=0.790
The Genome Aggregation DatabaseEast AsianSub1616G=0.230T=0.770
The Genome Aggregation DatabaseEuropeSub18404G=0.188T=0.811
The Genome Aggregation DatabaseGlobalStudy-wide29840G=0.286T=0.713
The Genome Aggregation DatabaseOtherSub302G=0.190T=0.810
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.336T=0.663
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.183T=0.817
PMID Title Author Journal
22072270Genome-wide association study identifies 5q21 and 9p24.1 (KDM4C) loci associated with alcohol withdrawal symptoms.Wang KSJ Neural Transm (Vienna)

P-Value

SNP ID p-value Traits Study
rs12512074.79E-05alcohol withdrawal symptoms22072270

eQTL of rs1251207 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 rs1251207 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 )
chr2129990903129991022E0709031
chr2129991443129991904E0709571
chr2129990903129991022E0819031
chr2129991443129991904E0819571
chr2129996773129997036E08114901
chr2130010223130010353E08128351
chr2130010398130011293E08128526
chr2129996773129997036E08214901
chr2130010223130010353E08228351