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rs398123339

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123339(A;G)
Make rs398123339(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position94113068
GeneABCA4
is asnp
is mentioned by
dbSNPrs398123339
ebirs398123339
HLIrs398123339
Exacrs398123339
Varsomers398123339
Maprs398123339
PheGenIrs398123339
hapmaprs398123339
1000 genomesrs398123339
hgdprs398123339
ensemblrs398123339
gopubmedrs398123339
geneviewrs398123339
scholarrs398123339
googlers398123339
pharmgkbrs398123339
gwascentralrs398123339
openSNPrs398123339
23andMers398123339
23andMe allrs398123339
SNP Nexus

SNPshotrs398123339
SNPdbers398123339
MSV3drs398123339
GWAS Ctlgrs398123339
Max Magnitude0
ClinVar
Risk rs398123339(G;G)
Alt rs398123339(G;G)
Reference rs398123339(A;A)
Significance Pathogenic
Disease Stargardt disease 1
Variation info
Gene ABCA4
CLNDBN Stargardt disease 1
Reversed 1
HGVS NC_000001.10:g.94578624T>C
CLNSRC ClinVar
CLNACC RCV000078672.4,