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rs61750654

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61750654(C;T)
Make rs61750654(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position94000870
GeneABCA4
is asnp
is mentioned by
dbSNPrs61750654
dbSNP (classic)rs61750654
ClinGenrs61750654
ebirs61750654
HLIrs61750654
Exacrs61750654
Gnomadrs61750654
Varsomers61750654
LitVarrs61750654
Maprs61750654
PheGenIrs61750654
Biobankrs61750654
1000 genomesrs61750654
hgdprs61750654
ensemblrs61750654
geneviewrs61750654
scholarrs61750654
googlers61750654
pharmgkbrs61750654
gwascentralrs61750654
openSNPrs61750654
23andMers61750654
SNPshotrs61750654
SNPdbers61750654
MSV3drs61750654
GWAS Ctlgrs61750654
Max Magnitude0
ClinVar
Risk rs61750654(T;T)
Alt rs61750654(T;T)
Reference Rs61750654(C;C)
Significance Pathogenic
Disease not provided Stargardt disease 1 Blindness Macular degeneration Visual loss
Variation info
Gene ABCA4
CLNDBN not provided Stargardt disease 1 Blindness Macular degeneration Visual loss
Reversed 1
HGVS NC_000001.10:g.94466426G>A
CLNSRC ClinVar Retina International
CLNACC RCV000085820.1, RCV000132593.1, RCV000414922.1,