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rs397518046

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397518046(C;T)
Make rs397518046(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position215838058
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397518046
ebirs397518046
HLIrs397518046
Exacrs397518046
Varsomers397518046
Maprs397518046
PheGenIrs397518046
hapmaprs397518046
1000 genomesrs397518046
hgdprs397518046
ensemblrs397518046
gopubmedrs397518046
geneviewrs397518046
scholarrs397518046
googlers397518046
pharmgkbrs397518046
gwascentralrs397518046
openSNPrs397518046
23andMers397518046
23andMe allrs397518046
SNP Nexus

SNPshotrs397518046
SNPdbers397518046
MSV3drs397518046
GWAS Ctlgrs397518046
Max Magnitude0
ClinVar
Risk rs397518046(T;T)
Alt rs397518046(T;T)
Reference rs397518046(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216011400G>A
CLNSRC ClinVar
CLNACC RCV000041947.2,