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rs1800728

From SNPedia

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


Make rs1800728(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position94011395
GeneABCA4
is asnp
is mentioned by
dbSNPrs1800728
ebirs1800728
HLIrs1800728
Exacrs1800728
Varsomers1800728
Maprs1800728
PheGenIrs1800728
hapmaprs1800728
1000 genomesrs1800728
hgdprs1800728
ensemblrs1800728
gopubmedrs1800728
geneviewrs1800728
scholarrs1800728
googlers1800728
pharmgkbrs1800728
gwascentralrs1800728
openSNPrs1800728
23andMers1800728
23andMe allrs1800728
SNP Nexus

SNPshotrs1800728
SNPdbers1800728
MSV3drs1800728
GWAS Ctlgrs1800728
Max Magnitude3
ClinVar
Risk rs1800728(C;C)
Alt rs1800728(C;C)
Reference Rs1800728(T;T)
Significance Pathogenic
Disease Cone-rod dystrophy 3 not provided Stargardt disease 1 Bull's eye maculopathy Retinal dystrophy not specified
Variation info
Gene ABCA4
CLNDBN Cone-rod dystrophy 3 not provided Stargardt disease 1 Bull's eye maculopathy Retinal dystrophy not specified
Reversed 1
HGVS NC_000001.10:g.94476951A>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000008366.3, RCV000078669.4, RCV000177965.1, RCV000210325.1, RCV000210327.1, RCV000255513.1,