Disease: CARDIOFACIOCUTANEOUS SYNDROME 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: rs121908594
rs121908594 		0.925 0.160 15 66435104 missense variant T/C snv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.800 1.000 2 2006 2008
dbSNP: rs121908595
rs121908595 		0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.800 1.000 2 2006 2008
dbSNP: rs727504317
rs727504317 		0.807 0.320 15 66435145 missense variant G/A snv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.700 1.000 1 2007 2007
dbSNP: rs797044593
rs797044593 		0.925 0.160 15 66436759 missense variant A/G snv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.700 1.000 1 2015 2015
dbSNP: rs1057519732
rs1057519732 		0.827 0.160 15 66436824 missense variant C/A;T snv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.700 0
dbSNP: rs121908596
rs121908596 		0.807 0.240 15 66436837 missense variant G/A;T snv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.700 0
dbSNP: rs730880508
rs730880508 		1.000 15 66436837 missense variant GC/TT mnv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.700 0
dbSNP: rs876657651
rs876657651 		0.882 0.160 15 66436818 missense variant A/G snv
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		0.700 0