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rs397517979

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397517979(C;C)
Make rs397517979(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position216324269
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397517979
ebirs397517979
HLIrs397517979
Exacrs397517979
Varsomers397517979
Maprs397517979
PheGenIrs397517979
hapmaprs397517979
1000 genomesrs397517979
hgdprs397517979
ensemblrs397517979
gopubmedrs397517979
geneviewrs397517979
scholarrs397517979
googlers397517979
pharmgkbrs397517979
gwascentralrs397517979
openSNPrs397517979
23andMers397517979
23andMe allrs397517979
SNP Nexus

SNPshotrs397517979
SNPdbers397517979
MSV3drs397517979
GWAS Ctlgrs397517979
Max Magnitude0
ClinVar
Risk rs397517979(C;C)
Alt rs397517979(C;C)
Reference rs397517979(G;G)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216497611C>G
CLNSRC ClinVar
CLNACC RCV000041715.2,