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rs397518039

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397518039(A;G)
Make rs397518039(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position215877882
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397518039
ebirs397518039
HLIrs397518039
Exacrs397518039
Varsomers397518039
Maprs397518039
PheGenIrs397518039
hapmaprs397518039
1000 genomesrs397518039
hgdprs397518039
ensemblrs397518039
gopubmedrs397518039
geneviewrs397518039
scholarrs397518039
googlers397518039
pharmgkbrs397518039
gwascentralrs397518039
openSNPrs397518039
23andMers397518039
23andMe allrs397518039
SNP Nexus

SNPshotrs397518039
SNPdbers397518039
MSV3drs397518039
GWAS Ctlgrs397518039
Max Magnitude0
ClinVar
Risk rs397518039(G;G)
Alt rs397518039(G;G)
Reference rs397518039(A;A)
Significance Pathogenic
Disease Usher syndrome Retinitis pigmentosa
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A Retinitis pigmentosa
Reversed 1
HGVS NC_000001.10:g.216051224T>C
CLNSRC ClinVar
CLNACC RCV000041930.2, RCV000132715.1,