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rs397517981

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397517981(G;G)
Make rs397517981(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position215675197
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397517981
ebirs397517981
HLIrs397517981
Exacrs397517981
Varsomers397517981
Maprs397517981
PheGenIrs397517981
hapmaprs397517981
1000 genomesrs397517981
hgdprs397517981
ensemblrs397517981
gopubmedrs397517981
geneviewrs397517981
scholarrs397517981
googlers397517981
pharmgkbrs397517981
gwascentralrs397517981
openSNPrs397517981
23andMers397517981
23andMe allrs397517981
SNP Nexus

SNPshotrs397517981
SNPdbers397517981
MSV3drs397517981
GWAS Ctlgrs397517981
Max Magnitude0
ClinVar
Risk rs397517981(G;G)
Alt rs397517981(G;G)
Reference rs397517981(T;T)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215848539A>C
CLNSRC ClinVar
CLNACC RCV000041728.2,