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rs1064074

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1064074(C;C)
Make rs1064074(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17498195
GeneUSH1C
is asnp
is mentioned by
dbSNPrs1064074
dbSNP (old)rs1064074
ClinGenrs1064074
ebirs1064074
HLIrs1064074
Exacrs1064074
Gnomadrs1064074
Varsomers1064074
LitVarrs1064074
Maprs1064074
PheGenIrs1064074
Biobankrs1064074
1000 genomesrs1064074
hgdprs1064074
ensemblrs1064074
gopubmedrs1064074
geneviewrs1064074
scholarrs1064074
googlers1064074
pharmgkbrs1064074
gwascentralrs1064074
openSNPrs1064074
23andMers1064074
23andMe allrs1064074
SNPshotrs1064074
SNPdbers1064074
MSV3drs1064074
GWAS Ctlgrs1064074
GMAF0.4353
Max Magnitude0
? (C;C) (C;G) (G;G) 28


ClinVar
Risk rs1064074(C;C) rs1064074(T;T)
Alt rs1064074(C;C) rs1064074(T;T)
Reference Rs1064074(G;G)
Significance Probable-non-pathogenic
Disease not specified Nonsyndromic Hearing Loss Retinitis pigmentosa-deafness syndrome
Variation info
Gene USH1C
CLNDBN not specified Nonsyndromic Hearing Loss, Recessive Retinitis pigmentosa-deafness syndrome
Reversed 1
HGVS NC_000011.9:g.17519742C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000041279.3, RCV000302668.1, RCV000390848.1,