rs5745879

Homo sapiens
C>A / C>T
RFC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0079 (9616/121368,ExAC)
T=0125 (3755/29970,GnomAD)
T=0138 (4029/29118,TOPMED)
C==0129 (1680/13006,GO-ESP)
T=0094 (472/5008,1000G)
T=0080 (308/3854,ALSPAC)
T=0081 (301/3708,TWINSUK)
chr12:118029840 (GRCh38.p7) (12q24.23)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.118029840C>A
GRCh38.p7 chr 12NC_000012.12:g.118029840C>T
GRCh37.p13 chr 12NC_000012.11:g.118467645C>A
GRCh37.p13 chr 12NC_000012.11:g.118467645C>T

Gene: RFC5, replication factor C subunit 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
RFC5 transcript variant 4NM_001130112.2:c.N/AIntron Variant
RFC5 transcript variant 5NM_001206801.1:c.N/AIntron Variant
RFC5 transcript variant 1NM_007370.5:c.N/AIntron Variant
RFC5 transcript variant 2NM_181578.3:c.N/AIntron Variant
RFC5 transcript variant X1XM_011538643.2:c.N/AIntron Variant
RFC5 transcript variant X2XM_011538645.2:c.N/AIntron Variant
RFC5 transcript variant X3XM_017019779.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.753T=0.247
1000GenomesAmericanSub694C=0.950T=0.050
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.904T=0.096
1000GenomesGlobalStudy-wide5008C=0.906T=0.094
1000GenomesSouth AsianSub978C=0.980T=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.920T=0.080
The Exome Aggregation ConsortiumAmericanSub21976C=0.875T=0.124
The Exome Aggregation ConsortiumAsianSub25160C=0.985T=0.014
The Exome Aggregation ConsortiumEuropeSub73324C=0.912T=0.087
The Exome Aggregation ConsortiumGlobalStudy-wide121368C=0.920T=0.079
The Exome Aggregation ConsortiumOtherSub908C=0.920T=0.080
The Genome Aggregation DatabaseAfricanSub8718C=0.781T=0.219
The Genome Aggregation DatabaseAmericanSub838C=0.950T=0.050
The Genome Aggregation DatabaseEast AsianSub1622C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18490C=0.902T=0.097
The Genome Aggregation DatabaseGlobalStudy-wide29970C=0.874T=0.125
The Genome Aggregation DatabaseOtherSub302C=0.970T=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.861T=0.138
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.919T=0.081
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs57458790.000249alcohol dependence21314694

eQTL of rs5745879 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 rs5745879 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 )
chr124346586243465946E07016577
chr124346608843466268E07016803
chr124346637943466523E07017094
chr124340323843403400E082-45885
chr124346608843466268E08216803
chr124346637943466523E08217094