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rs377546036

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs377546036(C;T)
Make rs377546036(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position78995177
GeneCANT1
is asnp
is mentioned by
dbSNPrs377546036
ebirs377546036
HLIrs377546036
Exacrs377546036
Varsomers377546036
Maprs377546036
PheGenIrs377546036
hapmaprs377546036
1000 genomesrs377546036
hgdprs377546036
ensemblrs377546036
gopubmedrs377546036
geneviewrs377546036
scholarrs377546036
googlers377546036
pharmgkbrs377546036
gwascentralrs377546036
openSNPrs377546036
23andMers377546036
23andMe allrs377546036
SNP Nexus

SNPshotrs377546036
SNPdbers377546036
MSV3drs377546036
GWAS Ctlgrs377546036
Max Magnitude0
ClinVar
Risk rs377546036(T;T)
Alt rs377546036(T;T)
Reference rs377546036(C;C)
Significance Pathogenic
Disease Desbuquois syndrome
Variation info
Gene CANT1
CLNDBN Desbuquois syndrome
Reversed 0
HGVS NC_000017.10:g.76991259C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024010.5,