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rs538543007

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs538543007(C;T)
Make rs538543007(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position78993929
GeneCANT1
is asnp
is mentioned by
dbSNPrs538543007
ebirs538543007
HLIrs538543007
Exacrs538543007
Varsomers538543007
Maprs538543007
PheGenIrs538543007
hapmaprs538543007
1000 genomesrs538543007
hgdprs538543007
ensemblrs538543007
gopubmedrs538543007
geneviewrs538543007
scholarrs538543007
googlers538543007
pharmgkbrs538543007
gwascentralrs538543007
openSNPrs538543007
23andMers538543007
23andMe allrs538543007
SNP Nexus

SNPshotrs538543007
SNPdbers538543007
MSV3drs538543007
GWAS Ctlgrs538543007
Max Magnitude0
ClinVar
Risk rs538543007(T;T)
Alt rs538543007(T;T)
Reference rs538543007(C;C)
Significance Probable-Pathogenic
Disease Desbuquois syndrome
Variation info
Gene CANT1
CLNDBN Desbuquois syndrome
Reversed 0
HGVS NC_000017.10:g.76990011C>T
CLNSRC
CLNACC RCV000178383.1,