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rs587776897

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs587776897(-;-)
Make rs587776897(-;AG)
ReferenceGRCh38 38.1/142
Chromosome17
Position78997345
GeneCANT1
is asnp
is mentioned by
dbSNPrs587776897
ebirs587776897
HLIrs587776897
Exacrs587776897
Varsomers587776897
Maprs587776897
PheGenIrs587776897
hapmaprs587776897
1000 genomesrs587776897
hgdprs587776897
ensemblrs587776897
gopubmedrs587776897
geneviewrs587776897
scholarrs587776897
googlers587776897
pharmgkbrs587776897
gwascentralrs587776897
openSNPrs587776897
23andMers587776897
23andMe allrs587776897
SNP Nexus

SNPshotrs587776897
SNPdbers587776897
MSV3drs587776897
GWAS Ctlgrs587776897
Max Magnitude0
ClinVar
Risk rs587776897(;)
Alt rs587776897(;)
Reference rs587776897(AG;AG)
Significance Pathogenic
Disease Desbuquois syndrome
Variation info
Gene CANT1
CLNDBN Desbuquois syndrome
Reversed 0
HGVS NC_000017.10:g.76993427_76993428delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000024007.5,