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rs1762111

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 3 Carrier of a mutation for Stargardt disease
(T;T) 0 common in clinvar


Make rs1762111(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94021934
GeneABCA4
is asnp
is mentioned by
dbSNPrs1762111
dbSNP (old)rs1762111
ClinGenrs1762111
ebirs1762111
HLIrs1762111
Exacrs1762111
Gnomadrs1762111
Varsomers1762111
Maprs1762111
PheGenIrs1762111
Biobankrs1762111
1000 genomesrs1762111
hgdprs1762111
ensemblrs1762111
gopubmedrs1762111
geneviewrs1762111
scholarrs1762111
googlers1762111
pharmgkbrs1762111
gwascentralrs1762111
openSNPrs1762111
23andMers1762111
23andMe allrs1762111
SNPshotrs1762111
SNPdbers1762111
MSV3drs1762111
GWAS Ctlgrs1762111
Max Magnitude3
? (C;C) (C;T) (T;T) 28
ClinVar
Risk rs1762111(C;C)
Alt rs1762111(C;C)
Reference Rs1762111(T;T)
Significance Pathogenic
Disease not provided not specified ABCA4-Related Disorders Cone-Rod Dystrophy Retinitis Pigmentosa Stargardt disease 1
Variation info
Gene ABCA4
CLNDBN not provided not specified ABCA4-Related Disorders Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt disease 1
Reversed 1
HGVS NC_000001.10:g.94487490A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000085664.1, RCV000254911.2, RCV000314956.1, RCV000335992.1, RCV000407014.1, RCV000408556.1,