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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
dbSNP (classic)rs61749665
ClinGenrs61749665
ebirs61749665
HLIrs61749665
Exacrs61749665
Gnomadrs61749665
Varsomers61749665
LitVarrs61749665
Maprs61749665
PheGenIrs61749665
Biobankrs61749665
1000 genomesrs61749665
hgdprs61749665
ensemblrs61749665
geneviewrs61749665
scholarrs61749665
googlers61749665
pharmgkbrs61749665
gwascentralrs61749665
openSNPrs61749665
23andMers61749665
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 UniProtKB (protein)
CLNACC RCV000009947.1, RCV000078318.6, RCV000084835.2,