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rs397518003

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397518003(A;G)
Make rs397518003(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position216289412
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397518003
ebirs397518003
HLIrs397518003
Exacrs397518003
Varsomers397518003
Maprs397518003
PheGenIrs397518003
hapmaprs397518003
1000 genomesrs397518003
hgdprs397518003
ensemblrs397518003
gopubmedrs397518003
geneviewrs397518003
scholarrs397518003
googlers397518003
pharmgkbrs397518003
gwascentralrs397518003
openSNPrs397518003
23andMers397518003
23andMe allrs397518003
SNP Nexus

SNPshotrs397518003
SNPdbers397518003
MSV3drs397518003
GWAS Ctlgrs397518003
Max Magnitude0
ClinVar
Risk rs397518003(G;G)
Alt rs397518003(G;G)
Reference rs397518003(A;A)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216462754T>C
CLNSRC ClinVar
CLNACC RCV000041799.2,