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rs397517436

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397517436(A;A)
Make rs397517436(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position90694162
GeneADGRV1
is asnp
is mentioned by
dbSNPrs397517436
dbSNP (classic)rs397517436
ClinGenrs397517436
ebirs397517436
HLIrs397517436
Exacrs397517436
Gnomadrs397517436
Varsomers397517436
LitVarrs397517436
Maprs397517436
PheGenIrs397517436
Biobankrs397517436
1000 genomesrs397517436
hgdprs397517436
ensemblrs397517436
geneviewrs397517436
scholarrs397517436
googlers397517436
pharmgkbrs397517436
gwascentralrs397517436
openSNPrs397517436
23andMers397517436
SNPshotrs397517436
SNPdbers397517436
MSV3drs397517436
GWAS Ctlgrs397517436
Max Magnitude0
ClinVar
Risk rs397517436(A;A)
Alt rs397517436(A;A)
Reference Rs397517436(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene ADGRV1 GPR98
CLNDBN Usher syndrome, type 2C
Reversed 0
HGVS NC_000005.9:g.89989979G>A
CLNSRC ClinVar
CLNACC RCV000039627.2,