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rs104894652

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894652(A;A)
Make rs104894652(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position74922961
GeneOTOP2, USH1G
is asnp
is mentioned by
dbSNPrs104894652
ebirs104894652
HLIrs104894652
Exacrs104894652
Varsomers104894652
Maprs104894652
PheGenIrs104894652
hapmaprs104894652
1000 genomesrs104894652
hgdprs104894652
ensemblrs104894652
gopubmedrs104894652
geneviewrs104894652
scholarrs104894652
googlers104894652
pharmgkbrs104894652
gwascentralrs104894652
openSNPrs104894652
23andMers104894652
23andMe allrs104894652
SNP Nexus

SNPshotrs104894652
SNPdbers104894652
MSV3drs104894652
GWAS Ctlgrs104894652
Max Magnitude0
OMIM607696
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894652(A;A)
Alt rs104894652(A;A)
Reference rs104894652(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH1G OTOP2
CLNDBN Usher syndrome, type 1G
Reversed 1
HGVS NC_000017.10:g.72919056C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003052.3,