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rs201620629

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201620629(A;A)
Make rs201620629(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position30086847
GeneTBX6
is asnp
is mentioned by
dbSNPrs201620629
ebirs201620629
HLIrs201620629
Exacrs201620629
Varsomers201620629
Maprs201620629
PheGenIrs201620629
hapmaprs201620629
1000 genomesrs201620629
hgdprs201620629
ensemblrs201620629
gopubmedrs201620629
geneviewrs201620629
scholarrs201620629
googlers201620629
pharmgkbrs201620629
gwascentralrs201620629
openSNPrs201620629
23andMers201620629
23andMe allrs201620629
SNP Nexus

SNPshotrs201620629
SNPdbers201620629
MSV3drs201620629
GWAS Ctlgrs201620629
Max Magnitude0
ClinVar
Risk rs201620629(A,C;A,C)
Alt rs201620629(A,C;A,C)
Reference rs201620629(G;G)
Significance Pathogenic
Disease Spondylocostal dysostosis 5
Variation info
Gene TBX6
CLNDBN Spondylocostal dysostosis 5
Reversed 0
HGVS NC_000016.9:g.30098168G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000167862.3,