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rs104894651

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894651(C;C)
Make rs104894651(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position74922931
GeneOTOP2, USH1G
is asnp
is mentioned by
dbSNPrs104894651
ebirs104894651
HLIrs104894651
Exacrs104894651
Varsomers104894651
Maprs104894651
PheGenIrs104894651
hapmaprs104894651
1000 genomesrs104894651
hgdprs104894651
ensemblrs104894651
gopubmedrs104894651
geneviewrs104894651
scholarrs104894651
googlers104894651
pharmgkbrs104894651
gwascentralrs104894651
openSNPrs104894651
23andMers104894651
23andMe allrs104894651
SNP Nexus

SNPshotrs104894651
SNPdbers104894651
MSV3drs104894651
GWAS Ctlgrs104894651
Max Magnitude0
OMIM607696
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894651(C;C)
Alt rs104894651(C;C)
Reference rs104894651(T;T)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH1G OTOP2
CLNDBN Usher syndrome, type 1G
Reversed 1
HGVS NC_000017.10:g.72919026A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003048.3,