CCDC8, coiled-coil domain containing 8, 83987

N. diseases: 98; N. variants: 3
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: rs1568590155
rs1568590155 		1.000 19 46412726 frameshift variant -/A delins
CUI: C3280146
Disease: THREE M SYNDROME 3
THREE M SYNDROME 3 		0.700 0
dbSNP: rs752254407
rs752254407 		1.000 19 46412198 frameshift variant -/C delins 1.3E-05
CUI: C3280146
Disease: THREE M SYNDROME 3
THREE M SYNDROME 3 		0.700 0
dbSNP: rs947996134
rs947996134 		19 46412799 missense variant G/C snv 1.2E-05 2.1E-05
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2005 2005