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rs372487178

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs372487178(C;T)
Make rs372487178(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position62616748
GeneB3GAT3
is asnp
is mentioned by
dbSNPrs372487178
ebirs372487178
HLIrs372487178
Exacrs372487178
Varsomers372487178
Maprs372487178
PheGenIrs372487178
hapmaprs372487178
1000 genomesrs372487178
hgdprs372487178
ensemblrs372487178
gopubmedrs372487178
geneviewrs372487178
scholarrs372487178
googlers372487178
pharmgkbrs372487178
gwascentralrs372487178
openSNPrs372487178
23andMers372487178
23andMe allrs372487178
SNP Nexus

SNPshotrs372487178
SNPdbers372487178
MSV3drs372487178
GWAS Ctlgrs372487178
Max Magnitude0
ClinVar
Risk rs372487178(T;T)
Alt rs372487178(T;T)
Reference rs372487178(C;C)
Significance Pathogenic
Disease MULTIPLE JOINT DISLOCATIONS
Variation info
Gene B3GAT3
CLNDBN MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS
Reversed 0
HGVS NC_000011.9:g.62384220C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000211124.1,