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rs794727347

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794727347(-;-)
Make rs794727347(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position90658228
GeneADGRV1
is asnp
is mentioned by
dbSNPrs794727347
dbSNP (classic)rs794727347
ClinGenrs794727347
ebirs794727347
HLIrs794727347
Exacrs794727347
Gnomadrs794727347
Varsomers794727347
LitVarrs794727347
Maprs794727347
PheGenIrs794727347
Biobankrs794727347
1000 genomesrs794727347
hgdprs794727347
ensemblrs794727347
geneviewrs794727347
scholarrs794727347
googlers794727347
pharmgkbrs794727347
gwascentralrs794727347
openSNPrs794727347
23andMers794727347
SNPshotrs794727347
SNPdbers794727347
MSV3drs794727347
GWAS Ctlgrs794727347
Max Magnitude0
ClinVar
Risk rs794727347(-;-)
Alt rs794727347(-;-)
Reference Rs794727347(A;A)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene GPR98 ADGRV1
CLNDBN Usher syndrome, type 2C
Reversed 0
HGVS NC_000005.9:g.89954045delA
CLNSRC
CLNACC RCV000176234.1,