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rs587776951

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776951(C;T)
Make rs587776951(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position79009663
GeneCANT1
is asnp
is mentioned by
dbSNPrs587776951
ebirs587776951
HLIrs587776951
Exacrs587776951
Varsomers587776951
Maprs587776951
PheGenIrs587776951
hapmaprs587776951
1000 genomesrs587776951
hgdprs587776951
ensemblrs587776951
gopubmedrs587776951
geneviewrs587776951
scholarrs587776951
googlers587776951
pharmgkbrs587776951
gwascentralrs587776951
openSNPrs587776951
23andMers587776951
23andMe allrs587776951
SNP Nexus

SNPshotrs587776951
SNPdbers587776951
MSV3drs587776951
GWAS Ctlgrs587776951
Max Magnitude0
ClinVar
Risk rs587776951(C,T;C,T)
Alt rs587776951(C,T;C,T)
Reference rs587776951(G;G)
Significance Pathogenic
Disease Desbuquois syndrome
Variation info
Gene CANT1
CLNDBN Desbuquois syndrome
Reversed 1
HGVS NC_000017.10:g.77005745C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034325.5,