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rs758718347

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs758718347(C;T)
Make rs758718347(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position90692782
GeneADGRV1
is asnp
is mentioned by
dbSNPrs758718347
ebirs758718347
HLIrs758718347
Exacrs758718347
Varsomers758718347
Maprs758718347
PheGenIrs758718347
hapmaprs758718347
1000 genomesrs758718347
hgdprs758718347
ensemblrs758718347
gopubmedrs758718347
geneviewrs758718347
scholarrs758718347
googlers758718347
pharmgkbrs758718347
gwascentralrs758718347
openSNPrs758718347
23andMers758718347
23andMe allrs758718347
SNP Nexus

SNPshotrs758718347
SNPdbers758718347
MSV3drs758718347
GWAS Ctlgrs758718347
Max Magnitude0
ClinVar
Risk rs758718347(T;T)
Alt rs758718347(T;T)
Reference rs758718347(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene GPR98 ADGRV1
CLNDBN Usher syndrome, type 2C
Reversed 0
HGVS NC_000005.9:g.89988599C>T
CLNSRC
CLNACC RCV000214702.1,