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rs1801269

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a mutation for Stargardt disease
Make rs1801269(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94041345
GeneABCA4
is asnp
is mentioned by
dbSNPrs1801269
dbSNP (old)rs1801269
ClinGenrs1801269
ebirs1801269
HLIrs1801269
Exacrs1801269
Gnomadrs1801269
Varsomers1801269
Maprs1801269
PheGenIrs1801269
Biobankrs1801269
1000 genomesrs1801269
hgdprs1801269
ensemblrs1801269
gopubmedrs1801269
geneviewrs1801269
scholarrs1801269
googlers1801269
pharmgkbrs1801269
gwascentralrs1801269
openSNPrs1801269
23andMers1801269
23andMe allrs1801269
SNPshotrs1801269
SNPdbers1801269
MSV3drs1801269
GWAS Ctlgrs1801269
Max Magnitude3
ClinVar
Risk rs1801269(T;T)
Alt rs1801269(T;T)
Reference Rs1801269(G;G)
Significance Probable-Pathogenic
Disease not provided Stargardt disease 1
Variation info
Gene ABCA4
CLNDBN not provided Stargardt disease 1
Reversed 1
HGVS NC_000001.10:g.94506901C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000085576.1, RCV000408578.1,