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rs786200938

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786200938(C;C)
Make rs786200938(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position1232279
GeneB3GALT6, SDF4
is asnp
is mentioned by
dbSNPrs786200938
ebirs786200938
HLIrs786200938
Exacrs786200938
Varsomers786200938
Maprs786200938
PheGenIrs786200938
hapmaprs786200938
1000 genomesrs786200938
hgdprs786200938
ensemblrs786200938
gopubmedrs786200938
geneviewrs786200938
scholarrs786200938
googlers786200938
pharmgkbrs786200938
gwascentralrs786200938
openSNPrs786200938
23andMers786200938
23andMe allrs786200938
SNP Nexus

SNPshotrs786200938
SNPdbers786200938
MSV3drs786200938
GWAS Ctlgrs786200938
Max Magnitude0
ClinVar
Risk rs786200938(C;C)
Alt rs786200938(C;C)
Reference rs786200938(T;T)
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.1167659A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000054390.4,