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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
dbSNP (old)rs1801581
ClinGenrs1801581
ebirs1801581
HLIrs1801581
Exacrs1801581
Gnomadrs1801581
Varsomers1801581
LitVarrs1801581
Maprs1801581
PheGenIrs1801581
Biobankrs1801581
1000 genomesrs1801581
hgdprs1801581
ensemblrs1801581
gopubmedrs1801581
geneviewrs1801581
scholarrs1801581
googlers1801581
pharmgkbrs1801581
gwascentralrs1801581
openSNPrs1801581
23andMers1801581
23andMe allrs1801581
SNPshotrs1801581
SNPdbers1801581
MSV3drs1801581
GWAS Ctlgrs1801581
GMAF0.01469
Max Magnitude0
OMIM601691
Desc
Variant0035
Relatedalso


ClinVar
Risk rs1801581(A;A) rs1801581(T;T)
Alt rs1801581(A;A) rs1801581(T;T)
Reference Rs1801581(G;G)
Significance Other
Disease MACULAR DEGENERATION Stargardt disease 1 not provided not specified Macular degeneration Cone-Rod Dystrophy Retinitis Pigmentosa Stargardt Disease
Variation info
Gene ABCA4
CLNDBN MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Stargardt disease 1 not provided not specified Macular degeneration Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive
Reversed 1
HGVS NC_000001.10:g.94512565C>T
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008374.4, RCV000008375.4, RCV000085512.3, RCV000152706.4, RCV000294335.1, RCV000349295.1, RCV000392936.1, RCV000399411.1,