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rs1800553

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1800553(A;A)
Make rs1800553(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position94008251
GeneABCA4
is asnp
is mentioned by
dbSNPrs1800553
ebirs1800553
HLIrs1800553
Exacrs1800553
Varsomers1800553
Maprs1800553
PheGenIrs1800553
hapmaprs1800553
1000 genomesrs1800553
hgdprs1800553
ensemblrs1800553
gopubmedrs1800553
geneviewrs1800553
scholarrs1800553
googlers1800553
pharmgkbrs1800553
gwascentralrs1800553
openSNPrs1800553
23andMers1800553
23andMe allrs1800553
SNP Nexus

SNPshotrs1800553
SNPdbers1800553
MSV3drs1800553
GWAS Ctlgrs1800553
GMAF0.002296
Max Magnitude0
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
Variation info
Gene ABCA4
CLNDBN MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Stargardt disease 1 Cone-rod dystrophy 3 not provided
Reversed 1
HGVS NC_000001.10:g.94473807C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000008339.2, RCV000008340.8, RCV000008341.3, RCV000078670.4, RCV000197749.1,


GET Evidence
ABCA4-G1961E
aa_change Gly1961Glu
aa_change_short G1961E
impact pathogenic
qualified_impact High clinical importance, Likely pathogenic
overall_frequency 0.00269567
summary This rare variant causes Stargardt Disease in a recessive manner. It was hypothesized to increase susceptibility to age-related macular degeneration, but subsequent studies have contradicted this hypothesis.