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rs121908370

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908370(C;T)
Make rs121908370(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17533268
GeneUSH1C
is asnp
is mentioned by
dbSNPrs121908370
dbSNP (classic)rs121908370
ClinGenrs121908370
ebirs121908370
HLIrs121908370
Exacrs121908370
Gnomadrs121908370
Varsomers121908370
LitVarrs121908370
Maprs121908370
PheGenIrs121908370
Biobankrs121908370
1000 genomesrs121908370
hgdprs121908370
ensemblrs121908370
geneviewrs121908370
scholarrs121908370
googlers121908370
pharmgkbrs121908370
gwascentralrs121908370
openSNPrs121908370
23andMers121908370
SNPshotrs121908370
SNPdbers121908370
MSV3drs121908370
GWAS Ctlgrs121908370
Max Magnitude0
OMIM605242
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908370(G;G) rs121908370(T;T)
Alt rs121908370(G;G) rs121908370(T;T)
Reference Rs121908370(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH1C
CLNDBN Usher syndrome, type 1C
Reversed 1
HGVS NC_000011.9:g.17554815G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005453.2,