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rs786204039

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786204039(-;-)
Make rs786204039(-;T)
Make rs786204039(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position30086285
GeneTBX6
is asnp
is mentioned by
dbSNPrs786204039
ebirs786204039
HLIrs786204039
Exacrs786204039
Varsomers786204039
Maprs786204039
PheGenIrs786204039
hapmaprs786204039
1000 genomesrs786204039
hgdprs786204039
ensemblrs786204039
gopubmedrs786204039
geneviewrs786204039
scholarrs786204039
googlers786204039
pharmgkbrs786204039
gwascentralrs786204039
openSNPrs786204039
23andMers786204039
23andMe allrs786204039
SNP Nexus

SNPshotrs786204039
SNPdbers786204039
MSV3drs786204039
GWAS Ctlgrs786204039
Max Magnitude0
ClinVar
Risk rs786204039(T;T)
Alt rs786204039(T;T)
Reference rs786204039(;)
Significance Pathogenic
Disease Spondylocostal dysostosis 5
Variation info
Gene TBX6
CLNDBN Spondylocostal dysostosis 5
Reversed 1
HGVS NC_000016.9:g.30097607dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000167864.3,