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rs746566873

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Carrier of a mutation for Stargardt disease
(G;G) 0 common in clinvar


Make rs746566873(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94051677
GeneABCA4
is asnp
is mentioned by
dbSNPrs746566873
dbSNP (classic)rs746566873
ClinGenrs746566873
ebirs746566873
HLIrs746566873
Exacrs746566873
Gnomadrs746566873
Varsomers746566873
LitVarrs746566873
Maprs746566873
PheGenIrs746566873
Biobankrs746566873
1000 genomesrs746566873
hgdprs746566873
ensemblrs746566873
geneviewrs746566873
scholarrs746566873
googlers746566873
pharmgkbrs746566873
gwascentralrs746566873
openSNPrs746566873
23andMers746566873
SNPshotrs746566873
SNPdbers746566873
MSV3drs746566873
GWAS Ctlgrs746566873
Max Magnitude3
ClinVar
Risk rs746566873(A;A)
Alt rs746566873(A;A)
Reference Rs746566873(G;G)
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.94517233G>A
CLNSRC
CLNACC RCV000408530.1, RCV000490201.1,