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rs786204040

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786204040(-;-)
Make rs786204040(-;C)
Make rs786204040(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position30090844
GeneTBX6
is asnp
is mentioned by
dbSNPrs786204040
ebirs786204040
HLIrs786204040
Exacrs786204040
Varsomers786204040
Maprs786204040
PheGenIrs786204040
hapmaprs786204040
1000 genomesrs786204040
hgdprs786204040
ensemblrs786204040
gopubmedrs786204040
geneviewrs786204040
scholarrs786204040
googlers786204040
pharmgkbrs786204040
gwascentralrs786204040
openSNPrs786204040
23andMers786204040
23andMe allrs786204040
SNP Nexus

SNPshotrs786204040
SNPdbers786204040
MSV3drs786204040
GWAS Ctlgrs786204040
Max Magnitude0
ClinVar
Risk rs786204040(C;C)
Alt rs786204040(C;C)
Reference rs786204040(;)
Significance Pathogenic
Disease Spondylocostal dysostosis 5
Variation info
Gene TBX6
CLNDBN Spondylocostal dysostosis 5
Reversed 1
HGVS NC_000016.9:g.30102166dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000167865.3,