rs1938218

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0432 (12746/29448,GnomAD)
T==0424 (12352/29118,TOPMED)
C=0486 (2433/5008,1000G)
T==0451 (1738/3854,ALSPAC)
T==0447 (1659/3708,TWINSUK)
chr6:48890842 (GRCh38.p7) (6p12.3)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.48890842T>C
GRCh37.p13 chr 6NC_000006.11:g.48858479T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.350C=0.650
1000GenomesAmericanSub694T=0.610C=0.390
1000GenomesEast AsianSub1008T=0.715C=0.285
1000GenomesEuropeSub1006T=0.430C=0.570
1000GenomesGlobalStudy-wide5008T=0.514C=0.486
1000GenomesSouth AsianSub978T=0.550C=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.451C=0.549
The Genome Aggregation DatabaseAfricanSub8642T=0.356C=0.644
The Genome Aggregation DatabaseAmericanSub812T=0.650C=0.350
The Genome Aggregation DatabaseEast AsianSub1546T=0.709C=0.291
The Genome Aggregation DatabaseEuropeSub18146T=0.437C=0.562
The Genome Aggregation DatabaseGlobalStudy-wide29448T=0.432C=0.567
The Genome Aggregation DatabaseOtherSub302T=0.360C=0.640
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.424C=0.575
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.447C=0.553
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs19382180.000827alcohol dependence20201924

eQTL of rs1938218 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr6:48858479CENPQENSG00000031691.6T>C5.7279e-16-572612Frontal_Cortex_BA9

meQTL of rs1938218 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 )
chr64888502048885140E07026541