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rs879255269

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879255269(C;T)
Make rs879255269(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position62617186
GeneB3GAT3
is asnp
is mentioned by
dbSNPrs879255269
ebirs879255269
HLIrs879255269
Exacrs879255269
Varsomers879255269
Maprs879255269
PheGenIrs879255269
hapmaprs879255269
1000 genomesrs879255269
hgdprs879255269
ensemblrs879255269
gopubmedrs879255269
geneviewrs879255269
scholarrs879255269
googlers879255269
pharmgkbrs879255269
gwascentralrs879255269
openSNPrs879255269
23andMers879255269
23andMe allrs879255269
SNP Nexus

SNPshotrs879255269
SNPdbers879255269
MSV3drs879255269
GWAS Ctlgrs879255269
Max Magnitude0
ClinVar
Risk rs879255269(T;T)
Alt rs879255269(T;T)
Reference rs879255269(C;C)
Significance Pathogenic
Disease MULTIPLE JOINT DISLOCATIONS
Variation info
Gene B3GAT3
CLNDBN MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS
Reversed 1
HGVS NC_000011.9:g.62384658G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000211050.2,