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rs587776509

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776509(-;-)
Make rs587776509(-;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position78995119
GeneCANT1
is asnp
is mentioned by
dbSNPrs587776509
ebirs587776509
HLIrs587776509
Exacrs587776509
Varsomers587776509
Maprs587776509
PheGenIrs587776509
hapmaprs587776509
1000 genomesrs587776509
hgdprs587776509
ensemblrs587776509
gopubmedrs587776509
geneviewrs587776509
scholarrs587776509
googlers587776509
pharmgkbrs587776509
gwascentralrs587776509
openSNPrs587776509
23andMers587776509
23andMe allrs587776509
SNP Nexus

SNPshotrs587776509
SNPdbers587776509
MSV3drs587776509
GWAS Ctlgrs587776509
Max Magnitude0
ClinVar
Risk rs587776509(GG,G;GG,G)
Alt rs587776509(GG,G;GG,G)
Reference rs587776509(CG;CG)
Significance Pathogenic
Disease Desbuquois syndrome
Variation info
Gene CANT1
CLNDBN Desbuquois syndrome
Reversed 1
HGVS NC_000017.10:g.76991201delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000000302.3,