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rs1800552

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a mutation for Stargardt disease
(G;G) 0 common in clinvar


Make rs1800552(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94010821
GeneABCA4
is asnp
is mentioned by
dbSNPrs1800552
dbSNP (old)rs1800552
ClinGenrs1800552
ebirs1800552
HLIrs1800552
Exacrs1800552
Gnomadrs1800552
Varsomers1800552
LitVarrs1800552
Maprs1800552
PheGenIrs1800552
Biobankrs1800552
1000 genomesrs1800552
hgdprs1800552
ensemblrs1800552
gopubmedrs1800552
geneviewrs1800552
scholarrs1800552
googlers1800552
pharmgkbrs1800552
gwascentralrs1800552
openSNPrs1800552
23andMers1800552
23andMe allrs1800552
SNPshotrs1800552
SNPdbers1800552
MSV3drs1800552
GWAS Ctlgrs1800552
Max Magnitude3
ClinVar
Risk rs1800552(A;A)
Alt rs1800552(A;A)
Reference Rs1800552(G;G)
Significance Probable-Pathogenic
Disease not provided Stargardt disease 1
Variation info
Gene ABCA4
CLNDBN not provided Stargardt disease 1
Reversed 1
HGVS NC_000001.10:g.94476377C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000085752.1, RCV000408593.1,