Have questions? Visit https://www.reddit.com/r/SNPedia

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
ebirs1064074
HLIrs1064074
Exacrs1064074
Varsomers1064074
Maprs1064074
PheGenIrs1064074
hapmaprs1064074
1000 genomesrs1064074
hgdprs1064074
ensemblrs1064074
gopubmedrs1064074
geneviewrs1064074
scholarrs1064074
googlers1064074
pharmgkbrs1064074
gwascentralrs1064074
openSNPrs1064074
23andMers1064074
23andMe allrs1064074
SNP Nexus

SNPshotrs1064074
SNPdbers1064074
MSV3drs1064074
GWAS Ctlgrs1064074
GMAF0.4353
Max Magnitude0
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene USH1C
allele G
frequency
sift
HuRef 1103649619897
Disease Association Defects in USH1C are the cause of nonsyndromic recessive deafness (DFNB18) (MIM:602092).



ClinVar
Risk rs1064074(C;C)
Alt rs1064074(C;C)
Reference rs1064074(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene USH1C
CLNDBN not specified
Reversed 1
HGVS NC_000011.9:g.17519742C>G
CLNSRC ClinVar
CLNACC RCV000041279.2,



GET Evidence
USH1C-E819D
aa_change Glu819Asp
aa_change_short E819D
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.516546
summary