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rs397517983

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397517983(C;T)
Make rs397517983(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position215675043
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397517983
ebirs397517983
HLIrs397517983
Exacrs397517983
Varsomers397517983
Maprs397517983
PheGenIrs397517983
hapmaprs397517983
1000 genomesrs397517983
hgdprs397517983
ensemblrs397517983
gopubmedrs397517983
geneviewrs397517983
scholarrs397517983
googlers397517983
pharmgkbrs397517983
gwascentralrs397517983
openSNPrs397517983
23andMers397517983
23andMe allrs397517983
SNP Nexus

SNPshotrs397517983
SNPdbers397517983
MSV3drs397517983
GWAS Ctlgrs397517983
Max Magnitude0
ClinVar
Risk rs397517983(T;T)
Alt rs397517983(T;T)
Reference rs397517983(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215848385G>A
CLNSRC ClinVar
CLNACC RCV000041731.2,