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

rs61751374

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61751374(C;T)
Make rs61751374(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position94043413
GeneABCA4
is asnp
is mentioned by
dbSNPrs61751374
ebirs61751374
HLIrs61751374
Exacrs61751374
Varsomers61751374
Maprs61751374
PheGenIrs61751374
hapmaprs61751374
1000 genomesrs61751374
hgdprs61751374
ensemblrs61751374
gopubmedrs61751374
geneviewrs61751374
scholarrs61751374
googlers61751374
pharmgkbrs61751374
gwascentralrs61751374
openSNPrs61751374
23andMers61751374
23andMe allrs61751374
SNP Nexus

SNPshotrs61751374
SNPdbers61751374
MSV3drs61751374
GWAS Ctlgrs61751374
GMAF0.0009183
Max Magnitude0
OMIM601691
Desc
Variant0016
Relatedalso


ClinVar
Risk rs61751374(T;T)
Alt rs61751374(T;T)
Reference rs61751374(C;C)
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.94508969G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008348.3, RCV000008350.2, RCV000008358.4, RCV000008359.4, RCV000085549.1,