rs5913935

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0099 (2068/20776,GnomAD)
C==0062 (233/3775,1000G)
C==0141 (524/3708,TWINSUK)
C==0137 (397/2889,ALSPAC)
chrX:56401840 (GRCh38.p7) (Xp11.21)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr XNC_000023.11:g.56401840C>T
GRCh37.p13 chr XNC_000023.10:g.56428273C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1003C=0.011T=0.989
1000GenomesAmericanSub524C=0.090T=0.910
1000GenomesEast AsianSub764C=0.000T=1.000
1000GenomesEuropeSub766C=0.180T=0.820
1000GenomesGlobalStudy-wide3775C=0.062T=0.938
1000GenomesSouth AsianSub718C=0.050T=0.950
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide2889C=0.137T=0.863
The Genome Aggregation DatabaseAfricanSub5886C=0.025T=0.975
The Genome Aggregation DatabaseAmericanSub613C=0.100T=0.900
The Genome Aggregation DatabaseEast AsianSub1007C=0.001T=0.999
The Genome Aggregation DatabaseEuropeSub13087C=0.137T=0.862
The Genome Aggregation DatabaseGlobalStudy-wide20776C=0.099T=0.900
The Genome Aggregation DatabaseOtherSub183C=0.360T=0.640
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.141T=0.859
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
rs59139350.000942alcohol dependence20201924

eQTL of rs5913935 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
ChrX:56428273MTHFD1P1ENSG00000231831.1C>T3.9343e-15-993569Cerebellum
ChrX:56428273MTHFD1P1ENSG00000231831.1C>T1.7334e-7-993569Frontal_Cortex_BA9
ChrX:56428273RP11-622K12.1ENSG00000204272.6C>T6.8864e-4-327419Hypothalamus
ChrX:56428273MTHFD1P1ENSG00000231831.1C>T2.3873e-13-993569Hypothalamus
ChrX:56428273MTHFD1P1ENSG00000231831.1C>T1.8542e-15-993569Cortex
ChrX:56428273MTHFD1P1ENSG00000231831.1C>T1.1509e-15-993569Cerebellar_Hemisphere
ChrX:56428273MTHFD1P1ENSG00000231831.1C>T1.1052e-9-993569Anterior_cingulate_cortex
ChrX:56428273MTHFD1P1ENSG00000231831.1C>T1.5501e-10-993569Nucleus_accumbens_basal_ganglia

meQTL of rs5913935 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.