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rs879253776

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs879253776(-;-)
Make rs879253776(-;C)
Make rs879253776(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position30086366
GeneTBX6
is asnp
is mentioned by
dbSNPrs879253776
ebirs879253776
HLIrs879253776
Exacrs879253776
Varsomers879253776
Maprs879253776
PheGenIrs879253776
hapmaprs879253776
1000 genomesrs879253776
hgdprs879253776
ensemblrs879253776
gopubmedrs879253776
geneviewrs879253776
scholarrs879253776
googlers879253776
pharmgkbrs879253776
gwascentralrs879253776
openSNPrs879253776
23andMers879253776
23andMe allrs879253776
SNP Nexus

SNPshotrs879253776
SNPdbers879253776
MSV3drs879253776
GWAS Ctlgrs879253776
Max Magnitude0
ClinVar
Risk rs879253776(C;C)
Alt rs879253776(C;C)
Reference rs879253776(;)
Significance Pathogenic
Disease Spondylocostal dysostosis 5
Variation info
Gene TBX6
CLNDBN Spondylocostal dysostosis 5
Reversed 1
HGVS NC_000016.9:g.30097688dupG
CLNSRC
CLNACC RCV000235075.1,