rs113212925

Homo sapiens
C>G / C>T
RNF43 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0013 (395/29968,GnomAD)
G=0016 (82/5008,1000G)
T=0001 (5/3854,ALSPAC)
T=0002 (7/3708,TWINSUK)
chr17:58373093 (GRCh38.p7) (17q22)
CD
GWASdb2
1   publication(s)
See rs on genome
37 Enhancers around
14 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.58373093C>G
GRCh38.p7 chr 17NC_000017.11:g.58373093C>T
GRCh37.p13 chr 17NC_000017.10:g.56450454C>G
GRCh37.p13 chr 17NC_000017.10:g.56450454C>T
RNF43 RefSeqGene LRG_1026
RNF43 RefSeqGene LRG_1026

Gene: RNF43, ring finger protein 43(minus strand)

Molecule type Change Amino acid[Codon] SO Term
RNF43 transcript variant 2NM_001305544.1:c.N/AIntron Variant
RNF43 transcript variant 3NM_001305545.1:c.N/AIntron Variant
RNF43 transcript variant 1NM_017763.5:c.N/AIntron Variant
RNF43 transcript variant X1XM_011524955.2:c.N/AIntron Variant
RNF43 transcript variant X3XM_011524956.2:c.N/AIntron Variant
RNF43 transcript variant X2XM_017024800.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.938T=0.000
1000GenomesAmericanSub694C=1.000T=0.00,
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.997T=0.003
1000GenomesGlobalStudy-wide5008C=0.983T=0.001
1000GenomesSouth AsianSub978C=1.000T=0.00,
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.999T=0.001
The Genome Aggregation DatabaseAfricanSub8716C=0.955G=0.045
The Genome Aggregation DatabaseAmericanSub838C=1.000G=0.00,
The Genome Aggregation DatabaseEast AsianSub1620C=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18492C=0.998G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29968C=0.985G=0.013
The Genome Aggregation DatabaseOtherSub302C=1.000G=0.00,
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.998T=0.002
PMID Title Author Journal
23958962Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.Gelernter JMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs1132129250.00000402cocaine dependence,AA23958962
rs1132129250.000697cocaine dependence23958962

eQTL of rs113212925 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 rs113212925 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 )
chr175785986657860162E067-42069
chr175786017557861472E067-40759
chr175790631957908056E0674088
chr175786017557861472E068-40759
chr175786151357862133E068-40098
chr175786213757862259E068-39972
chr175790617957906229E0683948
chr175790631957908056E0684088
chr175792483657925484E06822605
chr175793050357931136E06828272
chr175793039757930455E06928166
chr175793050357931136E06928272
chr175786017557861472E071-40759
chr175786151357862133E071-40098
chr175786213757862259E071-39972
chr175786229757862398E071-39833
chr175786242457862961E071-39270
chr175790617957906229E0713948
chr175790631957908056E0714088
chr175792132957924604E07119098
chr175792483657925484E07122605
chr175792994557930048E07127714
chr175793013757930244E07127906
chr175793039757930455E07128166
chr175793050357931136E07128272
chr175792132957924604E07219098
chr175792483657925484E07222605
chr175792132957924604E07319098
chr175785604157856135E074-46096
chr175786017557861472E074-40759
chr175792483657925484E07422605
chr175787376357874504E081-27727
chr175787481257874894E081-27337
chr175792132957924604E08119098
chr175792483657925484E08122605
chr175792878157929900E08126550
chr175790812457908716E0825893









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr175788216657882770E067-19461
chr175788279657882988E067-19243
chr175788216657882770E068-19461
chr175788279657882988E068-19243
chr175791452057919370E06812289
chr175788216657882770E071-19461
chr175788279657882988E071-19243
chr175791452057919370E07112289
chr175788216657882770E072-19461
chr175788279657882988E072-19243
chr175788216657882770E073-19461
chr175788279657882988E073-19243
chr175791452057919370E07312289
chr175791452057919370E07412289