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rs575453437

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs575453437(C;T)
Make rs575453437(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94060674
GeneABCA4
is asnp
is mentioned by
dbSNPrs575453437
dbSNP (classic)rs575453437
ClinGenrs575453437
ebirs575453437
HLIrs575453437
Exacrs575453437
Gnomadrs575453437
Varsomers575453437
LitVarrs575453437
Maprs575453437
PheGenIrs575453437
Biobankrs575453437
1000 genomesrs575453437
hgdprs575453437
ensemblrs575453437
geneviewrs575453437
scholarrs575453437
googlers575453437
pharmgkbrs575453437
gwascentralrs575453437
openSNPrs575453437
23andMers575453437
SNPshotrs575453437
SNPdbers575453437
MSV3drs575453437
GWAS Ctlgrs575453437
Max Magnitude0
ClinVar
Risk rs575453437(T;T)
Alt rs575453437(T;T)
Reference Rs575453437(C;C)
Significance Probable-Pathogenic
Disease Stargardt disease 1 not provided
Variation info
Gene ABCA4
CLNDBN Stargardt disease 1 not provided
Reversed 0
HGVS NC_000001.10:g.94526230C>T
CLNSRC
CLNACC RCV000329208.1, RCV000478104.1,