Have questions? Visit https://www.reddit.com/r/SNPedia

rs397517418

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs397517418(-;TGG)
Make rs397517418(TGG;TGG)
ReferenceGRCh38 38.1/141
Chromosome5
Position90728738
GeneADGRV1, LOC105379077
is asnp
is mentioned by
dbSNPrs397517418
dbSNP (classic)rs397517418
ClinGenrs397517418
ebirs397517418
HLIrs397517418
Exacrs397517418
Gnomadrs397517418
Varsomers397517418
LitVarrs397517418
Maprs397517418
PheGenIrs397517418
Biobankrs397517418
1000 genomesrs397517418
hgdprs397517418
ensemblrs397517418
geneviewrs397517418
scholarrs397517418
googlers397517418
pharmgkbrs397517418
gwascentralrs397517418
openSNPrs397517418
23andMers397517418
SNPshotrs397517418
SNPdbers397517418
MSV3drs397517418
GWAS Ctlgrs397517418
Max Magnitude0
ClinVar
Risk rs397517418(GTG;GTG)
Alt rs397517418(GTG;GTG)
Reference Rs397517418(-;-)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene ADGRV1 GPR98
CLNDBN Usher syndrome, type 2C
Reversed 0
HGVS NC_000005.9:g.90024553_90024555dupTGG
CLNSRC ClinVar
CLNACC RCV000039501.2,