Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1800553

From SNPedia

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


Make rs1800553(A;A)
ReferenceGRCh38 38.1/142
Chromosome1
Position94008251
GeneABCA4
is asnp
is mentioned by
dbSNPrs1800553
dbSNP (old)rs1800553
ClinGenrs1800553
ebirs1800553
HLIrs1800553
Exacrs1800553
Gnomadrs1800553
Varsomers1800553
Maprs1800553
PheGenIrs1800553
Biobankrs1800553
1000 genomesrs1800553
hgdprs1800553
ensemblrs1800553
gopubmedrs1800553
geneviewrs1800553
scholarrs1800553
googlers1800553
pharmgkbrs1800553
gwascentralrs1800553
openSNPrs1800553
23andMers1800553
23andMe allrs1800553
SNPshotrs1800553
SNPdbers1800553
MSV3drs1800553
GWAS Ctlgrs1800553
GMAF0.002296
Max Magnitude3
OMIM601691
Desc
Variant0007
Relatedalso
ClinVar
Risk rs1800553(A;A)
Alt rs1800553(A;A)
Reference Rs1800553(G;G)
Significance Other
Disease MACULAR DEGENERATION Stargardt disease 1 Cone-rod dystrophy 3 not provided ABCA4-Related Disorders
Variation info
Gene ABCA4
CLNDBN MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Stargardt disease 1 Cone-rod dystrophy 3 not provided ABCA4-Related Disorders
Reversed 1
HGVS NC_000001.10:g.94473807C>T
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008339.4, RCV000008340.12, RCV000008341.4, RCV000078670.5, RCV000197749.1, RCV000273328.1,