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rs397517435

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs397517435(-;-)
Make rs397517435(-;TG)
ReferenceGRCh38 38.1/141
Chromosome5
Position90694130
GeneADGRV1
is asnp
is mentioned by
dbSNPrs397517435
dbSNP (classic)rs397517435
ClinGenrs397517435
ebirs397517435
HLIrs397517435
Exacrs397517435
Gnomadrs397517435
Varsomers397517435
LitVarrs397517435
Maprs397517435
PheGenIrs397517435
Biobankrs397517435
1000 genomesrs397517435
hgdprs397517435
ensemblrs397517435
geneviewrs397517435
scholarrs397517435
googlers397517435
pharmgkbrs397517435
gwascentralrs397517435
openSNPrs397517435
23andMers397517435
SNPshotrs397517435
SNPdbers397517435
MSV3drs397517435
GWAS Ctlgrs397517435
Max Magnitude0
ClinVar
Risk rs397517435(-;-)
Alt rs397517435(-;-)
Reference Rs397517435(TG;TG)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene ADGRV1 GPR98
CLNDBN Usher syndrome, type 2C
Reversed 0
HGVS NC_000005.9:g.89989947_89989948delTG
CLNSRC ClinVar
CLNACC RCV000039626.2,