Have questions? Visit https://www.reddit.com/r/SNPedia

rs587776898

From SNPedia

Orientationplus
Stabilizedminus
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
dbSNP (classic)rs587776898
ClinGenrs587776898
ebirs587776898
HLIrs587776898
Exacrs587776898
Gnomadrs587776898
Varsomers587776898
LitVarrs587776898
Maprs587776898
PheGenIrs587776898
Biobankrs587776898
1000 genomesrs587776898
hgdprs587776898
ensemblrs587776898
geneviewrs587776898
scholarrs587776898
googlers587776898
pharmgkbrs587776898
gwascentralrs587776898
openSNPrs587776898
23andMers587776898
SNPshotrs587776898
SNPdbers587776898
MSV3drs587776898
GWAS Ctlgrs587776898
Max Magnitude0
ClinVar
Risk Rs587776898(C;C)
Alt Rs587776898(C;C)
Reference Rs587776898(G;G)
Significance Pathogenic
Disease Desbuquois dysplasia 1
Variation info
Gene CANT1
CLNDBN Desbuquois dysplasia 1
Reversed 1
HGVS NC_000017.10:g.76993330C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000024009.5,