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rs527236119

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs527236119(A;G)
Make rs527236119(G;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position215782779
GeneUSH2A
is asnp
is mentioned by
dbSNPrs527236119
ebirs527236119
HLIrs527236119
Exacrs527236119
Varsomers527236119
Maprs527236119
PheGenIrs527236119
hapmaprs527236119
1000 genomesrs527236119
hgdprs527236119
ensemblrs527236119
gopubmedrs527236119
geneviewrs527236119
scholarrs527236119
googlers527236119
pharmgkbrs527236119
gwascentralrs527236119
openSNPrs527236119
23andMers527236119
23andMe allrs527236119
SNP Nexus

SNPshotrs527236119
SNPdbers527236119
MSV3drs527236119
GWAS Ctlgrs527236119
Max Magnitude0
ClinVar
Risk rs527236119(C,G;C,G)
Alt rs527236119(C,G;C,G)
Reference rs527236119(A;A)
Significance Pathogenic
Disease Retinitis pigmentosa
Variation info
Gene USH2A
CLNDBN Retinitis pigmentosa
Reversed 1
HGVS NC_000001.10:g.215956121T>C
CLNSRC ClinVar
CLNACC RCV000132700.1,