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rs61749665

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61749665(G;T)
Make rs61749665(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8003201
GeneGUCY2D
is asnp
is mentioned by
dbSNPrs61749665
ebirs61749665
HLIrs61749665
Exacrs61749665
Varsomers61749665
Maprs61749665
PheGenIrs61749665
hapmaprs61749665
1000 genomesrs61749665
hgdprs61749665
ensemblrs61749665
gopubmedrs61749665
geneviewrs61749665
scholarrs61749665
googlers61749665
pharmgkbrs61749665
gwascentralrs61749665
openSNPrs61749665
23andMers61749665
23andMe allrs61749665
SNP Nexus

SNPshotrs61749665
SNPdbers61749665
MSV3drs61749665
GWAS Ctlgrs61749665
GMAF0.3765
Max Magnitude0
OMIM600179
Desc
Variant0004
Relatedalso


ClinVar
Risk rs61749665(T;T)
Alt rs61749665(T;T)
Reference rs61749665(G;G)
Significance Probable-non-pathogenic
Disease Leber congenital amaurosis 1 not specified not provided
Variation info
Gene GUCY2D
CLNDBN Leber congenital amaurosis 1 not specified not provided
Reversed 0
HGVS NC_000017.10:g.7906519G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009947.1, RCV000078318.4, RCV000084835.2,



GET Evidence
GUCY2D-A52S
aa_change Ala52Ser
aa_change_short A52S
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.21016
summary One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.