Have questions? Visit https://www.reddit.com/r/SNPedia

rs61751392

From SNPedia

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


Make rs61751392(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position94063250
GeneABCA4
is asnp
is mentioned by
dbSNPrs61751392
ClinGenrs61751392
ebirs61751392
HLIrs61751392
Exacrs61751392
Varsomers61751392
Maprs61751392
PheGenIrs61751392
hapmaprs61751392
1000 genomesrs61751392
hgdprs61751392
ensemblrs61751392
gopubmedrs61751392
geneviewrs61751392
scholarrs61751392
googlers61751392
pharmgkbrs61751392
gwascentralrs61751392
openSNPrs61751392
23andMers61751392
23andMe allrs61751392
SNP Nexus

SNPshotrs61751392
SNPdbers61751392
MSV3drs61751392
GWAS Ctlgrs61751392
Max Magnitude3
ClinVar
Risk rs61751392(C;C)
Alt rs61751392(C;C)
Reference Rs61751392(T;T)
Significance Pathogenic
Disease Stargardt disease 1 Cone-rod dystrophy 3 not provided
Variation info
Gene ABCA4
CLNDBN Stargardt disease 1 Cone-rod dystrophy 3 not provided
Reversed 1
HGVS NC_000001.10:g.94528806A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008358.4, RCV000008359.4, RCV000085410.2,