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rs730880369

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs730880369(-;ACGAG)
Make rs730880369(ACGAG;ACGAG)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position90683704
GeneADGRV1
is asnp
is mentioned by
dbSNPrs730880369
dbSNP (classic)rs730880369
ClinGenrs730880369
ebirs730880369
HLIrs730880369
Exacrs730880369
Gnomadrs730880369
Varsomers730880369
LitVarrs730880369
Maprs730880369
PheGenIrs730880369
Biobankrs730880369
1000 genomesrs730880369
hgdprs730880369
ensemblrs730880369
geneviewrs730880369
scholarrs730880369
googlers730880369
pharmgkbrs730880369
gwascentralrs730880369
openSNPrs730880369
23andMers730880369
SNPshotrs730880369
SNPdbers730880369
MSV3drs730880369
GWAS Ctlgrs730880369
Max Magnitude0
ClinVar
Risk rs730880369(AGACG;AGACG)
Alt rs730880369(AGACG;AGACG)
Reference Rs730880369(-;-)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene ADGRV1 GPR98
CLNDBN Usher syndrome, type 2C
Reversed 0
HGVS NC_000005.9:g.89979517_89979521dupACGAG
CLNSRC
CLNACC RCV000156744.1,