Have questions? Visit https://www.reddit.com/r/SNPedia

rs527236123

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs527236123(G;T)
Make rs527236123(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position216418675
GeneUSH2A
is asnp
is mentioned by
dbSNPrs527236123
ebirs527236123
HLIrs527236123
Exacrs527236123
Varsomers527236123
Maprs527236123
PheGenIrs527236123
hapmaprs527236123
1000 genomesrs527236123
hgdprs527236123
ensemblrs527236123
gopubmedrs527236123
geneviewrs527236123
scholarrs527236123
googlers527236123
pharmgkbrs527236123
gwascentralrs527236123
openSNPrs527236123
23andMers527236123
23andMe allrs527236123
SNP Nexus

SNPshotrs527236123
SNPdbers527236123
MSV3drs527236123
GWAS Ctlgrs527236123
Max Magnitude0
ClinVar
Risk rs527236123(T;T)
Alt rs527236123(T;T)
Reference rs527236123(G;G)
Significance Probable-Pathogenic
Disease Retinitis pigmentosa
Variation info
Gene USH2A
CLNDBN Retinitis pigmentosa
Reversed 1
HGVS NC_000001.10:g.216592017C>A
CLNSRC ClinVar
CLNACC RCV000132713.1,