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rs587776510

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587776510(-;-)
Make rs587776510(-;GCGGC)
Make rs587776510(GCGGC;GCGGC)
ReferenceGRCh38 38.1/142
Chromosome17
Position78993846
GeneCANT1
is asnp
is mentioned by
dbSNPrs587776510
ebirs587776510
HLIrs587776510
Exacrs587776510
Varsomers587776510
Maprs587776510
PheGenIrs587776510
hapmaprs587776510
1000 genomesrs587776510
hgdprs587776510
ensemblrs587776510
gopubmedrs587776510
geneviewrs587776510
scholarrs587776510
googlers587776510
pharmgkbrs587776510
gwascentralrs587776510
openSNPrs587776510
23andMers587776510
23andMe allrs587776510
SNP Nexus

SNPshotrs587776510
SNPdbers587776510
MSV3drs587776510
GWAS Ctlgrs587776510
Max Magnitude0
ClinVar
Risk rs587776510(GCGGC;GCGGC)
Alt rs587776510(GCGGC;GCGGC)
Reference rs587776510(;)
Significance Pathogenic
Disease Desbuquois syndrome
Variation info
Gene CANT1
CLNDBN Desbuquois syndrome
Reversed 1
HGVS NC_000017.10:g.76989928_76989929insGCGGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000000305.3,