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rs387906937

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906937(A;A)
Make rs387906937(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position62616585
GeneB3GAT3
is asnp
is mentioned by
dbSNPrs387906937
ebirs387906937
HLIrs387906937
Exacrs387906937
Varsomers387906937
Maprs387906937
PheGenIrs387906937
hapmaprs387906937
1000 genomesrs387906937
hgdprs387906937
ensemblrs387906937
gopubmedrs387906937
geneviewrs387906937
scholarrs387906937
googlers387906937
pharmgkbrs387906937
gwascentralrs387906937
openSNPrs387906937
23andMers387906937
23andMe allrs387906937
SNP Nexus

SNPshotrs387906937
SNPdbers387906937
MSV3drs387906937
GWAS Ctlgrs387906937
Max Magnitude0
ClinVar
Risk rs387906937(A;A)
Alt rs387906937(A;A)
Reference rs387906937(G;G)
Significance Pathogenic
Disease Multiple joint dislocations MULTIPLE JOINT DISLOCATIONS
Variation info
Gene B3GAT3
CLNDBN Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS
Reversed 1
HGVS NC_000011.9:g.62384057C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023536.4, RCV000211049.1,