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rs527236129

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs527236129(A;T)
Make rs527236129(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position94047039
GeneABCA4
is asnp
is mentioned by
dbSNPrs527236129
ebirs527236129
HLIrs527236129
Exacrs527236129
Varsomers527236129
Maprs527236129
PheGenIrs527236129
hapmaprs527236129
1000 genomesrs527236129
hgdprs527236129
ensemblrs527236129
gopubmedrs527236129
geneviewrs527236129
scholarrs527236129
googlers527236129
pharmgkbrs527236129
gwascentralrs527236129
openSNPrs527236129
23andMers527236129
23andMe allrs527236129
SNP Nexus

SNPshotrs527236129
SNPdbers527236129
MSV3drs527236129
GWAS Ctlgrs527236129
Max Magnitude0
ClinVar
Risk rs527236129(T;T)
Alt rs527236129(T;T)
Reference rs527236129(A;A)
Significance Pathogenic
Disease Stargardt disease 1
Variation info
Gene ABCA4
CLNDBN Stargardt disease 1
Reversed 1
HGVS NC_000001.10:g.94512595T>A
CLNSRC ClinVar
CLNACC RCV000132589.1,