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rs61749755

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs61749755(C;C)
Make rs61749755(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8009531
GeneGUCY2D
is asnp
is mentioned by
dbSNPrs61749755
ebirs61749755
HLIrs61749755
Exacrs61749755
Varsomers61749755
Maprs61749755
PheGenIrs61749755
hapmaprs61749755
1000 genomesrs61749755
hgdprs61749755
ensemblrs61749755
gopubmedrs61749755
geneviewrs61749755
scholarrs61749755
googlers61749755
pharmgkbrs61749755
gwascentralrs61749755
openSNPrs61749755
23andMers61749755
23andMe allrs61749755
SNP Nexus

SNPshotrs61749755
SNPdbers61749755
MSV3drs61749755
GWAS Ctlgrs61749755
Max Magnitude0
OMIM600179
Desc
Variant0001
Relatedalso


ClinVar
Risk rs61749755(C;C)
Alt rs61749755(C;C)
Reference rs61749755(T;T)
Significance Pathogenic
Disease Leber congenital amaurosis 1 not provided
Variation info
Gene GUCY2D
CLNDBN Leber congenital amaurosis 1 not provided
Reversed 0
HGVS NC_000017.10:g.7912849T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009944.4, RCV000084839.1,