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rs267606700

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606700(C;T)
Make rs267606700(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position78993860
GeneCANT1
is asnp
is mentioned by
dbSNPrs267606700
ebirs267606700
HLIrs267606700
Exacrs267606700
Varsomers267606700
Maprs267606700
PheGenIrs267606700
hapmaprs267606700
1000 genomesrs267606700
hgdprs267606700
ensemblrs267606700
gopubmedrs267606700
geneviewrs267606700
scholarrs267606700
googlers267606700
pharmgkbrs267606700
gwascentralrs267606700
openSNPrs267606700
23andMers267606700
23andMe allrs267606700
SNP Nexus

SNPshotrs267606700
SNPdbers267606700
MSV3drs267606700
GWAS Ctlgrs267606700
Max Magnitude0
ClinVar
Risk rs267606700(T;T)
Alt rs267606700(T;T)
Reference rs267606700(C;C)
Significance Pathogenic
Disease Desbuquois syndrome
Variation info
Gene CANT1
CLNDBN Desbuquois syndrome
Reversed 1
HGVS NC_000017.10:g.76989942G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000307.4,