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rs1801581

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1801581(A;A)
Make rs1801581(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position94047009
GeneABCA4
is asnp
is mentioned by
dbSNPrs1801581
ebirs1801581
HLIrs1801581
Exacrs1801581
Varsomers1801581
Maprs1801581
PheGenIrs1801581
hapmaprs1801581
1000 genomesrs1801581
hgdprs1801581
ensemblrs1801581
gopubmedrs1801581
geneviewrs1801581
scholarrs1801581
googlers1801581
pharmgkbrs1801581
gwascentralrs1801581
openSNPrs1801581
23andMers1801581
23andMe allrs1801581
SNP Nexus

SNPshotrs1801581
SNPdbers1801581
MSV3drs1801581
GWAS Ctlgrs1801581
GMAF0.01469
Max Magnitude0
OMIM601691
Desc
Variant0035
Relatedalso


ClinVar
Risk rs1801581(A,T;A,T)
Alt rs1801581(A,T;A,T)
Reference rs1801581(G;G)
Significance Other
Disease MACULAR DEGENERATION Stargardt disease 1 not provided not specified
Variation info
Gene ABCA4
CLNDBN MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Stargardt disease 1 not provided not specified
Reversed 1
HGVS NC_000001.10:g.94512565C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000008374.3, RCV000008375.3, RCV000085512.3, RCV000152706.3,



GET Evidence
ABCA4-R943Q
aa_change Arg943Gln
aa_change_short R943Q
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.0316044
summary This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect.