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rs397514500

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514500(A;A)
Make rs397514500(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17531233
GeneUSH1C
is asnp
is mentioned by
dbSNPrs397514500
ebirs397514500
HLIrs397514500
Exacrs397514500
Varsomers397514500
Maprs397514500
PheGenIrs397514500
hapmaprs397514500
1000 genomesrs397514500
hgdprs397514500
ensemblrs397514500
gopubmedrs397514500
geneviewrs397514500
scholarrs397514500
googlers397514500
pharmgkbrs397514500
gwascentralrs397514500
openSNPrs397514500
23andMers397514500
23andMe allrs397514500
SNP Nexus

SNPshotrs397514500
SNPdbers397514500
MSV3drs397514500
GWAS Ctlgrs397514500
Max Magnitude0
ClinVar
Risk rs397514500(A,T;A,T)
Alt rs397514500(A,T;A,T)
Reference rs397514500(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH1C
CLNDBN Usher syndrome, type 1C
Reversed 1
HGVS NC_000011.9:g.17552780C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032622.3,