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rs587776898

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776898(C;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position78997248
GeneCANT1
is asnp
is mentioned by
dbSNPrs587776898
ebirs587776898
HLIrs587776898
Exacrs587776898
Varsomers587776898
Maprs587776898
PheGenIrs587776898
hapmaprs587776898
1000 genomesrs587776898
hgdprs587776898
ensemblrs587776898
gopubmedrs587776898
geneviewrs587776898
scholarrs587776898
googlers587776898
pharmgkbrs587776898
gwascentralrs587776898
openSNPrs587776898
23andMers587776898
23andMe allrs587776898
SNP Nexus

SNPshotrs587776898
SNPdbers587776898
MSV3drs587776898
GWAS Ctlgrs587776898
Max Magnitude0
ClinVar
Risk rs587776898(C;C)
Alt rs587776898(C;C)
Reference rs587776898(G;G)
Significance Pathogenic
Disease Desbuquois syndrome
Variation info
Gene CANT1
CLNDBN Desbuquois syndrome
Reversed 1
HGVS NC_000017.10:g.76993330C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024009.5,