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rs113106943

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a mutation for Stargardt disease
Make rs113106943(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94021848
GeneABCA4
is asnp
is mentioned by
dbSNPrs113106943
dbSNP (old)rs113106943
ClinGenrs113106943
ebirs113106943
HLIrs113106943
Exacrs113106943
Gnomadrs113106943
Varsomers113106943
LitVarrs113106943
Maprs113106943
PheGenIrs113106943
Biobankrs113106943
1000 genomesrs113106943
hgdprs113106943
ensemblrs113106943
gopubmedrs113106943
geneviewrs113106943
scholarrs113106943
googlers113106943
pharmgkbrs113106943
gwascentralrs113106943
openSNPrs113106943
23andMers113106943
23andMe allrs113106943
SNPshotrs113106943
SNPdbers113106943
MSV3drs113106943
GWAS Ctlgrs113106943
Max Magnitude3
ClinVar
Risk rs113106943(T;T)
Alt rs113106943(T;T)
Reference Rs113106943(C;C)
Significance Probable-Pathogenic
Disease not specified Retinitis Pigmentosa Stargardt Disease Macular degeneration Cone-Rod Dystrophy Stargardt disease 1 not provided
Variation info
Gene ABCA4
CLNDBN not specified Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive Macular degeneration Cone-Rod Dystrophy, Recessive Stargardt disease 1 not provided
Reversed 0
HGVS NC_000001.10:g.94487404C>T
CLNSRC Illumina
CLNACC RCV000152705.3, RCV000285181.1, RCV000323858.1, RCV000376503.1, RCV000381856.1, RCV000408525.1, RCV000416254.1,