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rs397517977

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397517977(C;C)
Make rs397517977(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position215680377
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397517977
ebirs397517977
HLIrs397517977
Exacrs397517977
Varsomers397517977
Maprs397517977
PheGenIrs397517977
hapmaprs397517977
1000 genomesrs397517977
hgdprs397517977
ensemblrs397517977
gopubmedrs397517977
geneviewrs397517977
scholarrs397517977
googlers397517977
pharmgkbrs397517977
gwascentralrs397517977
openSNPrs397517977
23andMers397517977
23andMe allrs397517977
SNP Nexus

SNPshotrs397517977
SNPdbers397517977
MSV3drs397517977
GWAS Ctlgrs397517977
Max Magnitude0
ClinVar
Risk rs397517977(C;C)
Alt rs397517977(C;C)
Reference rs397517977(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215853719C>G
CLNSRC ClinVar
CLNACC RCV000041711.2,