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rs397517994

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397517994(C;T)
Make rs397517994(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position215640615
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397517994
ebirs397517994
HLIrs397517994
Exacrs397517994
Varsomers397517994
Maprs397517994
PheGenIrs397517994
hapmaprs397517994
1000 genomesrs397517994
hgdprs397517994
ensemblrs397517994
gopubmedrs397517994
geneviewrs397517994
scholarrs397517994
googlers397517994
pharmgkbrs397517994
gwascentralrs397517994
openSNPrs397517994
23andMers397517994
23andMe allrs397517994
SNP Nexus

SNPshotrs397517994
SNPdbers397517994
MSV3drs397517994
GWAS Ctlgrs397517994
Max Magnitude0
ClinVar
Risk rs397517994(T;T)
Alt rs397517994(T;T)
Reference rs397517994(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215813957G>A
CLNSRC ClinVar
CLNACC RCV000041772.2,