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rs61751389

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;G) 3 Carrier of a mutation for Stargardt disease
(G;G) 0 common in clinvar


Make rs61751389(-;-)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94007722
GeneABCA4
is asnp
is mentioned by
dbSNPrs61751389
dbSNP (classic)rs61751389
ClinGenrs61751389
ebirs61751389
HLIrs61751389
Exacrs61751389
Gnomadrs61751389
Varsomers61751389
LitVarrs61751389
Maprs61751389
PheGenIrs61751389
Biobankrs61751389
1000 genomesrs61751389
hgdprs61751389
ensemblrs61751389
geneviewrs61751389
scholarrs61751389
googlers61751389
pharmgkbrs61751389
gwascentralrs61751389
openSNPrs61751389
23andMers61751389
SNPshotrs61751389
SNPdbers61751389
MSV3drs61751389
GWAS Ctlgrs61751389
Max Magnitude3
ClinVar
Risk rs61751389(-;-)
Alt rs61751389(-;-)
Reference Rs61751389(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.94473278delC
CLNSRC
CLNACC RCV000085776.1, RCV000408561.1,