Disease: COFFIN-SIRIS SYNDROME 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: rs387906857
rs387906857 		1.000 17 40637511 missense variant T/C;G snv
CUI: C4310788
Disease: COFFIN-SIRIS SYNDROME 5
COFFIN-SIRIS SYNDROME 5 		0.800 1.000 2 2012 2013
dbSNP: rs1555605795
rs1555605795 		1.000 17 40636488 missense variant C/G snv
CUI: C4310788
Disease: COFFIN-SIRIS SYNDROME 5
COFFIN-SIRIS SYNDROME 5 		0.700 0