Disease: SPONDYLOCOSTAL DYSOSTOSIS 5 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113994160
rs113994160 		0.925 0.080 17 8123096 missense variant G/A snv
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.700 0
dbSNP: rs387906978
rs387906978 		0.925 17 8121693 missense variant C/A snv 2.8E-05
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.700 0
dbSNP: rs387906979
rs387906979 		0.925 17 8122397 missense variant T/C snv
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.700 0
dbSNP: rs398122970
rs398122970 		1.000 17 8121854 frameshift variant -/GTTTGGGGCG delins
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.700 0