rs2144363

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0085 (2568/29920,GnomAD)
C=0117 (3407/29118,TOPMED)
C=0149 (744/5008,1000G)
C=0038 (146/3854,ALSPAC)
C=0031 (116/3708,TWINSUK)
chr6:91332186 (GRCh38.p7) (6q15)
AD
GWASdb2
3   publication(s)
See rs on genome
8 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.91332186A>C
GRCh37.p13 chr 6NC_000006.11:g.92041904A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.825C=0.175
1000GenomesAmericanSub694A=0.920C=0.080
1000GenomesEast AsianSub1008A=0.721C=0.279
1000GenomesEuropeSub1006A=0.973C=0.027
1000GenomesGlobalStudy-wide5008A=0.851C=0.149
1000GenomesSouth AsianSub978A=0.850C=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.962C=0.038
The Genome Aggregation DatabaseAfricanSub8700A=0.836C=0.164
The Genome Aggregation DatabaseAmericanSub838A=0.900C=0.100
The Genome Aggregation DatabaseEast AsianSub1592A=0.670C=0.330
The Genome Aggregation DatabaseEuropeSub18488A=0.972C=0.027
The Genome Aggregation DatabaseGlobalStudy-wide29920A=0.914C=0.085
The Genome Aggregation DatabaseOtherSub302A=0.910C=0.090
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.883C=0.117
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.969C=0.031
PMID Title Author Journal
18466457Rheumatoid arthritis, item response theory, Blom transformation, and mixed models.Kraja ATBMC Proc
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
27066514Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5-6.0 Hz polyspike waves.Wight JEMol Genet Genomic Med

P-Value

SNP ID p-value Traits Study
rs21443635.3E-05alcohol consumption (maxi-drinks)24277619

eQTL of rs2144363 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 rs2144363 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 )
chr69200023592000524E067-41380
chr69205090692051003E0679002
chr69202581692025880E069-16024
chr69202581692025880E070-16024
chr69202598392026106E070-15798
chr69202708092027182E070-14722
chr69200023592000524E071-41380
chr69202708092027182E071-14722