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rs76157638

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs76157638(C;G)
Make rs76157638(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position94051698
GeneABCA4
is asnp
is mentioned by
dbSNPrs76157638
ebirs76157638
HLIrs76157638
Exacrs76157638
Varsomers76157638
Maprs76157638
PheGenIrs76157638
hapmaprs76157638
1000 genomesrs76157638
hgdprs76157638
ensemblrs76157638
gopubmedrs76157638
geneviewrs76157638
scholarrs76157638
googlers76157638
pharmgkbrs76157638
gwascentralrs76157638
openSNPrs76157638
23andMers76157638
23andMe allrs76157638
SNP Nexus

SNPshotrs76157638
SNPdbers76157638
MSV3drs76157638
GWAS Ctlgrs76157638
Merged fromRs121909203
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs76157638(G;G)
Alt rs76157638(G;G)
Reference rs76157638(C;C)
Significance Pathogenic
Disease Stargardt disease 1 Cone-rod dystrophy 3 not provided
Variation info
Gene ABCA4
CLNDBN Stargardt disease 1 Cone-rod dystrophy 3 not provided
Reversed 0
HGVS NC_000001.10:g.94517254C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008328.2, RCV000008329.2, RCV000085494.1, RCV000197749.1,


GET Evidence
ABCA4-G863A
aa_change Gly863Ala
aa_change_short G863A
impact pathogenic
qualified_impact High clinical importance, Uncertain pathogenic
overall_frequency 0.00492657
summary Identified in three compound heterozygote cases of Stargardt Disease.