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rs587776895

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587776895(-;-)
Make rs587776895(-;GGCGC)
Make rs587776895(GGCGC;GGCGC)
ReferenceGRCh38 38.1/142
Chromosome17
Position78993854
GeneCANT1
is asnp
is mentioned by
dbSNPrs587776895
ebirs587776895
HLIrs587776895
Exacrs587776895
Varsomers587776895
Maprs587776895
PheGenIrs587776895
hapmaprs587776895
1000 genomesrs587776895
hgdprs587776895
ensemblrs587776895
gopubmedrs587776895
geneviewrs587776895
scholarrs587776895
googlers587776895
pharmgkbrs587776895
gwascentralrs587776895
openSNPrs587776895
23andMers587776895
23andMe allrs587776895
SNP Nexus

SNPshotrs587776895
SNPdbers587776895
MSV3drs587776895
GWAS Ctlgrs587776895
Max Magnitude0
ClinVar
Risk rs587776895(GGCGC;GGCGC)
Alt rs587776895(GGCGC;GGCGC)
Reference rs587776895(;)
Significance Pathogenic
Disease Desbuquois syndrome
Variation info
Gene CANT1
CLNDBN Desbuquois syndrome
Reversed 0
HGVS NC_000017.10:g.76989932_76989936dupGGCGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000024005.4,