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rs397518036

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397518036(C;T)
Make rs397518036(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position216327619
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397518036
ebirs397518036
HLIrs397518036
Exacrs397518036
Varsomers397518036
Maprs397518036
PheGenIrs397518036
hapmaprs397518036
1000 genomesrs397518036
hgdprs397518036
ensemblrs397518036
gopubmedrs397518036
geneviewrs397518036
scholarrs397518036
googlers397518036
pharmgkbrs397518036
gwascentralrs397518036
openSNPrs397518036
23andMers397518036
23andMe allrs397518036
SNP Nexus

SNPshotrs397518036
SNPdbers397518036
MSV3drs397518036
GWAS Ctlgrs397518036
Max Magnitude0
ClinVar
Risk rs397518036(G,T;G,T)
Alt rs397518036(G,T;G,T)
Reference rs397518036(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216500961G>A
CLNSRC ClinVar
CLNACC RCV000041921.2,