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rs527236126

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs527236126(C;T)
Make rs527236126(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position215650692
GeneUSH2A
is asnp
is mentioned by
dbSNPrs527236126
ebirs527236126
HLIrs527236126
Exacrs527236126
Varsomers527236126
Maprs527236126
PheGenIrs527236126
hapmaprs527236126
1000 genomesrs527236126
hgdprs527236126
ensemblrs527236126
gopubmedrs527236126
geneviewrs527236126
scholarrs527236126
googlers527236126
pharmgkbrs527236126
gwascentralrs527236126
openSNPrs527236126
23andMers527236126
23andMe allrs527236126
SNP Nexus

SNPshotrs527236126
SNPdbers527236126
MSV3drs527236126
GWAS Ctlgrs527236126
Max Magnitude0
ClinVar
Risk rs527236126(T;T)
Alt rs527236126(T;T)
Reference rs527236126(C;C)
Significance Probable-Pathogenic
Disease Retinitis pigmentosa Leber's amaurosis
Variation info
Gene USH2A
CLNDBN Retinitis pigmentosa Leber's amaurosis
Reversed 1
HGVS NC_000001.10:g.215824034G>A
CLNSRC ClinVar
CLNACC RCV000132706.1, RCV000144482.1,