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rs1047376

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 3 Carrier of a mutation for Stargardt disease
(T;T) 0 common in clinvar
Make rs1047376(A;A)
Make rs1047376(A;T)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94041354
GeneABCA4
is asnp
is mentioned by
dbSNPrs1047376
dbSNP (old)rs1047376
ClinGenrs1047376
ebirs1047376
HLIrs1047376
Exacrs1047376
Gnomadrs1047376
Varsomers1047376
Maprs1047376
PheGenIrs1047376
Biobankrs1047376
1000 genomesrs1047376
hgdprs1047376
ensemblrs1047376
gopubmedrs1047376
geneviewrs1047376
scholarrs1047376
googlers1047376
pharmgkbrs1047376
gwascentralrs1047376
openSNPrs1047376
23andMers1047376
23andMe allrs1047376
SNP Nexus

SNPshotrs1047376
SNPdbers1047376
MSV3drs1047376
GWAS Ctlgrs1047376
Max Magnitude3
? (A;A) (A;T) (T;T) 28
ClinVar
Risk rs1047376(A;A) rs1047376(C;C)
Alt rs1047376(A;A) rs1047376(C;C)
Reference Rs1047376(T;T)
Significance Probable-Pathogenic
Disease Stargardt disease 1
Variation info
Gene ABCA4
CLNDBN Stargardt disease 1
Reversed 1
HGVS NC_000001.10:g.94506910A>G
CLNSRC
CLNACC RCV000408515.1,