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rs758051786

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs758051786(-;-)
Make rs758051786(-;C)
Make rs758051786(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position30088756
GeneTBX6
is asnp
is mentioned by
dbSNPrs758051786
ebirs758051786
HLIrs758051786
Exacrs758051786
Varsomers758051786
Maprs758051786
PheGenIrs758051786
hapmaprs758051786
1000 genomesrs758051786
hgdprs758051786
ensemblrs758051786
gopubmedrs758051786
geneviewrs758051786
scholarrs758051786
googlers758051786
pharmgkbrs758051786
gwascentralrs758051786
openSNPrs758051786
23andMers758051786
23andMe allrs758051786
SNP Nexus

SNPshotrs758051786
SNPdbers758051786
MSV3drs758051786
GWAS Ctlgrs758051786
Max Magnitude0
ClinVar
Risk rs758051786(C;C)
Alt rs758051786(C;C)
Reference rs758051786(;)
Significance Pathogenic
Disease Spondylocostal dysostosis 5
Variation info
Gene TBX6
CLNDBN Spondylocostal dysostosis 5
Reversed 0
HGVS NC_000016.9:g.30100078dupC
CLNSRC
CLNACC RCV000235054.1,