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rs142253670

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a mutation for Stargardt disease
Make rs142253670(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94008252
GeneABCA4
is asnp
is mentioned by
dbSNPrs142253670
dbSNP (old)rs142253670
ClinGenrs142253670
ebirs142253670
HLIrs142253670
Exacrs142253670
Gnomadrs142253670
Varsomers142253670
Maprs142253670
PheGenIrs142253670
Biobankrs142253670
1000 genomesrs142253670
hgdprs142253670
ensemblrs142253670
gopubmedrs142253670
geneviewrs142253670
scholarrs142253670
googlers142253670
pharmgkbrs142253670
gwascentralrs142253670
openSNPrs142253670
23andMers142253670
23andMe allrs142253670
SNPshotrs142253670
SNPdbers142253670
MSV3drs142253670
GWAS Ctlgrs142253670
Max Magnitude3
ClinVar
Risk rs142253670(T;T)
Alt rs142253670(T;T)
Reference Rs142253670(C;C)
Significance Probable-Pathogenic
Disease Stargardt disease 1
Variation info
Gene ABCA4
CLNDBN Stargardt disease 1
Reversed 0
HGVS NC_000001.10:g.94473808C>T
CLNSRC
CLNACC RCV000408510.1,