rs202193096, TBX6

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.925 0.040 16 30089130 missense variant G/A snv 2.2E-04 1.0E-04 0.700 1.000 1 2015 2015
SPONDYLOCOSTAL DYSOSTOSIS 5
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
13 0.925 0.040 16 30089130 missense variant G/A snv 2.2E-04 1.0E-04 0.700 0