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rs397518042

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397518042(G;G)
Make rs397518042(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position215844393
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397518042
ebirs397518042
HLIrs397518042
Exacrs397518042
Varsomers397518042
Maprs397518042
PheGenIrs397518042
hapmaprs397518042
1000 genomesrs397518042
hgdprs397518042
ensemblrs397518042
gopubmedrs397518042
geneviewrs397518042
scholarrs397518042
googlers397518042
pharmgkbrs397518042
gwascentralrs397518042
openSNPrs397518042
23andMers397518042
23andMe allrs397518042
SNP Nexus

SNPshotrs397518042
SNPdbers397518042
MSV3drs397518042
GWAS Ctlgrs397518042
Max Magnitude0
ClinVar
Risk rs397518042(G;G)
Alt rs397518042(G;G)
Reference rs397518042(T;T)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216017735A>C
CLNSRC ClinVar
CLNACC RCV000041939.2,