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

rs61750137

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a mutation for Stargardt disease
Make rs61750137(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94031015
GeneABCA4
is asnp
is mentioned by
dbSNPrs61750137
dbSNP (classic)rs61750137
ClinGenrs61750137
ebirs61750137
HLIrs61750137
Exacrs61750137
Gnomadrs61750137
Varsomers61750137
LitVarrs61750137
Maprs61750137
PheGenIrs61750137
Biobankrs61750137
1000 genomesrs61750137
hgdprs61750137
ensemblrs61750137
geneviewrs61750137
scholarrs61750137
googlers61750137
pharmgkbrs61750137
gwascentralrs61750137
openSNPrs61750137
23andMers61750137
SNPshotrs61750137
SNPdbers61750137
MSV3drs61750137
GWAS Ctlgrs61750137
Max Magnitude3
ClinVar
Risk rs61750137(T;T)
Alt rs61750137(T;T)
Reference Rs61750137(C;C)
Significance Pathogenic
Disease not provided Stargardt disease 1
Variation info
Gene ABCA4
CLNDBN not provided Stargardt disease 1
Reversed 1
HGVS NC_000001.10:g.94496571G>A
CLNSRC
CLNACC RCV000085616.2, RCV000408549.1,