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rs397517990

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397517990(A;A)
Make rs397517990(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position215650648
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397517990
ebirs397517990
HLIrs397517990
Exacrs397517990
Varsomers397517990
Maprs397517990
PheGenIrs397517990
hapmaprs397517990
1000 genomesrs397517990
hgdprs397517990
ensemblrs397517990
gopubmedrs397517990
geneviewrs397517990
scholarrs397517990
googlers397517990
pharmgkbrs397517990
gwascentralrs397517990
openSNPrs397517990
23andMers397517990
23andMe allrs397517990
SNP Nexus

SNPshotrs397517990
SNPdbers397517990
MSV3drs397517990
GWAS Ctlgrs397517990
Max Magnitude0
ClinVar
Risk rs397517990(A;A)
Alt rs397517990(A;A)
Reference rs397517990(G;G)
Significance Probable-Pathogenic
Disease Retinitis pigmentosa 39 Usher syndrome
Variation info
Gene USH2A
CLNDBN Retinitis pigmentosa 39 Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215823990C>T
CLNSRC ClinVar
CLNACC RCV000041756.2,