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rs146451547

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs146451547(A;A)
Make rs146451547(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position17504664
GeneUSH1C
is asnp
is mentioned by
dbSNPrs146451547
ebirs146451547
HLIrs146451547
Exacrs146451547
Varsomers146451547
Maprs146451547
PheGenIrs146451547
hapmaprs146451547
1000 genomesrs146451547
hgdprs146451547
ensemblrs146451547
gopubmedrs146451547
geneviewrs146451547
scholarrs146451547
googlers146451547
pharmgkbrs146451547
gwascentralrs146451547
openSNPrs146451547
23andMers146451547
23andMe allrs146451547
SNP Nexus

SNPshotrs146451547
SNPdbers146451547
MSV3drs146451547
GWAS Ctlgrs146451547
Max Magnitude0
ClinVar
Risk rs146451547(A;A)
Alt rs146451547(A;A)
Reference rs146451547(G;G)
Significance Probable-Pathogenic
Disease Deafness Non-syndromic genetic deafness
Variation info
Gene USH1C
CLNDBN Deafness, autosomal recessive 18 Non-syndromic genetic deafness
Reversed 0
HGVS NC_000011.9:g.17526211G>A
CLNSRC ClinVar
CLNACC RCV000041266.5, RCV000211746.1,