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rs61750187

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61750187(C;T)
Make rs61750187(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position8015781
GeneGUCY2D
is asnp
is mentioned by
dbSNPrs61750187
ebirs61750187
HLIrs61750187
Exacrs61750187
Varsomers61750187
Maprs61750187
PheGenIrs61750187
hapmaprs61750187
1000 genomesrs61750187
hgdprs61750187
ensemblrs61750187
gopubmedrs61750187
geneviewrs61750187
scholarrs61750187
googlers61750187
pharmgkbrs61750187
gwascentralrs61750187
openSNPrs61750187
23andMers61750187
23andMe allrs61750187
SNP Nexus

SNPshotrs61750187
SNPdbers61750187
MSV3drs61750187
GWAS Ctlgrs61750187
Max Magnitude0
ClinVar
Risk rs61750187(T;T)
Alt rs61750187(T;T)
Reference rs61750187(C;C)
Significance Probable-Pathogenic
Disease not provided Leber congenital amaurosis 1
Variation info
Gene GUCY2D
CLNDBN not provided Leber congenital amaurosis 1
Reversed 0
HGVS NC_000017.10:g.7919099C>T
CLNSRC
CLNACC RCV000084879.1, RCV000174991.1,