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rs61750126

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs61750126(G;G)
Make rs61750126(G;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position94040048
GeneABCA4
is asnp
is mentioned by
dbSNPrs61750126
ebirs61750126
HLIrs61750126
Exacrs61750126
Varsomers61750126
Maprs61750126
PheGenIrs61750126
hapmaprs61750126
1000 genomesrs61750126
hgdprs61750126
ensemblrs61750126
gopubmedrs61750126
geneviewrs61750126
scholarrs61750126
googlers61750126
pharmgkbrs61750126
gwascentralrs61750126
openSNPrs61750126
23andMers61750126
23andMe allrs61750126
SNP Nexus

SNPshotrs61750126
SNPdbers61750126
MSV3drs61750126
GWAS Ctlgrs61750126
GMAF0.02066
Max Magnitude0
OMIM601691
Desc
Variant0025
Relatedalso


ClinVar
Risk rs61750126(G;G)
Alt rs61750126(G;G)
Reference rs61750126(T;T)
Significance Pathogenic
Disease Cone-rod dystrophy 3 not provided not specified
Variation info
Gene ABCA4
CLNDBN Cone-rod dystrophy 3 not provided not specified
Reversed 1
HGVS NC_000001.10:g.94505604A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008361.2, RCV000085583.1, RCV000176456.1,



GET Evidence
ABCA4-L1201R
aa_change Leu1201Arg
aa_change_short L1201R
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0326269
summary There is weak evidence for this variant being associated with Stargardt disease.