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rs61749427

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61749427(C;C)
Make rs61749427(C;G)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94060536
GeneABCA4
is asnp
is mentioned by
dbSNPrs61749427
dbSNP (classic)rs61749427
ClinGenrs61749427
ebirs61749427
HLIrs61749427
Exacrs61749427
Gnomadrs61749427
Varsomers61749427
LitVarrs61749427
Maprs61749427
PheGenIrs61749427
Biobankrs61749427
1000 genomesrs61749427
hgdprs61749427
ensemblrs61749427
geneviewrs61749427
scholarrs61749427
googlers61749427
pharmgkbrs61749427
gwascentralrs61749427
openSNPrs61749427
23andMers61749427
SNPshotrs61749427
SNPdbers61749427
MSV3drs61749427
GWAS Ctlgrs61749427
Max Magnitude0
ClinVar
Risk rs61749427(C;C) rs61749427(T;T)
Alt rs61749427(C;C) rs61749427(T;T)
Reference Rs61749427(G;G)
Significance Pathogenic
Disease Stargardt disease 1 not provided
Variation info
Gene ABCA4
CLNDBN Stargardt disease 1 not provided
Reversed 1
HGVS NC_000001.10:g.94526092C>A; NC_000001.10:g.94526092C>G
CLNSRC
CLNACC RCV000408563.1, RCV000085465.1,