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rs876657419

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs876657419(C;G)
Make rs876657419(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position74923028
GeneOTOP2, USH1G
is asnp
is mentioned by
dbSNPrs876657419
dbSNP (classic)rs876657419
ClinGenrs876657419
ebirs876657419
HLIrs876657419
Exacrs876657419
Gnomadrs876657419
Varsomers876657419
LitVarrs876657419
Maprs876657419
PheGenIrs876657419
Biobankrs876657419
1000 genomesrs876657419
hgdprs876657419
ensemblrs876657419
geneviewrs876657419
scholarrs876657419
googlers876657419
pharmgkbrs876657419
gwascentralrs876657419
openSNPrs876657419
23andMers876657419
SNPshotrs876657419
SNPdbers876657419
MSV3drs876657419
GWAS Ctlgrs876657419
Max Magnitude0
ClinVar
Risk rs876657419(G;G)
Alt rs876657419(G;G)
Reference Rs876657419(C;C)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH1G OTOP2
CLNDBN Usher syndrome, type 1
Reversed 1
HGVS NC_000017.10:g.72919123G>C
CLNSRC
CLNACC RCV000220910.1,