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rs61748559

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61748559(A;A)
Make rs61748559(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position94063157
GeneABCA4
is asnp
is mentioned by
dbSNPrs61748559
ebirs61748559
HLIrs61748559
Exacrs61748559
Varsomers61748559
Maprs61748559
PheGenIrs61748559
hapmaprs61748559
1000 genomesrs61748559
hgdprs61748559
ensemblrs61748559
gopubmedrs61748559
geneviewrs61748559
scholarrs61748559
googlers61748559
pharmgkbrs61748559
gwascentralrs61748559
openSNPrs61748559
23andMers61748559
23andMe allrs61748559
SNP Nexus

SNPshotrs61748559
SNPdbers61748559
MSV3drs61748559
GWAS Ctlgrs61748559
Max Magnitude0
OMIM601691
Desc
Variant0022
Relatedalso
ClinVar
Risk rs61748559(A,C;A,C)
Alt rs61748559(A,C;A,C)
Reference rs61748559(G;G)
Significance Pathogenic
Disease not provided Stargardt disease 1
Variation info
Gene ABCA4
CLNDBN not provided Stargardt disease 1
Reversed 1
HGVS NC_000001.10:g.94528713C>G; NC_000001.10:g.94528713C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000085417.1, RCV000008357.4, RCV000085416.1,