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rs786200939

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786200939(C;G)
Make rs786200939(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position1233177
GeneB3GALT6, SDF4
is asnp
is mentioned by
dbSNPrs786200939
ebirs786200939
HLIrs786200939
Exacrs786200939
Varsomers786200939
Maprs786200939
PheGenIrs786200939
hapmaprs786200939
1000 genomesrs786200939
hgdprs786200939
ensemblrs786200939
gopubmedrs786200939
geneviewrs786200939
scholarrs786200939
googlers786200939
pharmgkbrs786200939
gwascentralrs786200939
openSNPrs786200939
23andMers786200939
23andMe allrs786200939
SNP Nexus

SNPshotrs786200939
SNPdbers786200939
MSV3drs786200939
GWAS Ctlgrs786200939
Max Magnitude0
ClinVar
Risk rs786200939(G;G)
Alt rs786200939(G;G)
Reference rs786200939(C;C)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia with joint laxity
Variation info
Gene B3GALT6 SDF4
CLNDBN Spondyloepimetaphyseal dysplasia with joint laxity
Reversed 1
HGVS NC_000001.10:g.1168557G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000054393.4,