rs10515595

Homo sapiens
C>T
C5orf46 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0088 (2661/29950,GnomAD)
T=0093 (2710/29118,TOPMED)
T=0129 (644/5008,1000G)
T=0114 (441/3854,ALSPAC)
T=0109 (406/3708,TWINSUK)
chr5:147862163 (GRCh38.p7) (5q32)
AD
GWASdb2
1   publication(s)
See rs on genome
10 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.147862163C>T
GRCh37.p13 chr 5NC_000005.9:g.147241726C>T

Gene: C5orf46, chromosome 5 open reading frame 46(minus strand)

Molecule type Change Amino acid[Codon] SO Term
C5orf46 transcriptNM_206966.2:c.N/AGenic Downstream Transcript Variant
C5orf46 transcript variant X1XM_017009459.1:c.N/AIntron Variant
C5orf46 transcript variant X2XM_005268446.3:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.927T=0.073
1000GenomesAmericanSub694C=0.910T=0.090
1000GenomesEast AsianSub1008C=0.783T=0.217
1000GenomesEuropeSub1006C=0.907T=0.093
1000GenomesGlobalStudy-wide5008C=0.871T=0.129
1000GenomesSouth AsianSub978C=0.830T=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.886T=0.114
The Genome Aggregation DatabaseAfricanSub8724C=0.935T=0.065
The Genome Aggregation DatabaseAmericanSub836C=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1610C=0.788T=0.212
The Genome Aggregation DatabaseEuropeSub18480C=0.910T=0.089
The Genome Aggregation DatabaseGlobalStudy-wide29950C=0.911T=0.088
The Genome Aggregation DatabaseOtherSub300C=0.850T=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.906T=0.093
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.891T=0.109
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
rs105155950.00031alcohol dependence20201924

eQTL of rs10515595 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 rs10515595 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 )
chr5147197808147198255E071-43471
chr5147198567147198693E071-43033
chr5147198768147199263E071-42463
chr5147199298147199420E071-42306
chr5147199553147199655E071-42071
chr5147199807147200055E071-41671
chr5147197808147198255E074-43471
chr5147198768147199263E074-42463
chr5147199298147199420E074-42306
chr5147286268147286600E07444542