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rs202193096

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs202193096(A;A)
Make rs202193096(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position30089130
GeneTBX6
is asnp
is mentioned by
dbSNPrs202193096
ebirs202193096
HLIrs202193096
Exacrs202193096
Varsomers202193096
Maprs202193096
PheGenIrs202193096
hapmaprs202193096
1000 genomesrs202193096
hgdprs202193096
ensemblrs202193096
gopubmedrs202193096
geneviewrs202193096
scholarrs202193096
googlers202193096
pharmgkbrs202193096
gwascentralrs202193096
openSNPrs202193096
23andMers202193096
23andMe allrs202193096
SNP Nexus

SNPshotrs202193096
SNPdbers202193096
MSV3drs202193096
GWAS Ctlgrs202193096
Max Magnitude0
ClinVar
Risk rs202193096(A;A)
Alt rs202193096(A;A)
Reference rs202193096(G;G)
Significance Pathogenic
Disease Spondylocostal dysostosis 5
Variation info
Gene TBX6
CLNDBN Spondylocostal dysostosis 5
Reversed 0
HGVS NC_000016.9:g.30100451G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000167866.3,