Disease: CARDIOFACIOCUTANEOUS SYNDROME 4 ×
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: rs121434497
rs121434497 		0.925 0.160 19 4117552 missense variant A/C;T snv
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		0.800 1.000 3 2006 2010
dbSNP: rs121434498
rs121434498 		0.807 0.280 19 4117553 missense variant A/C;G;T snv
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		0.800 1.000 3 2006 2010
dbSNP: rs121434499
rs121434499 		0.925 0.160 19 4110559 missense variant A/G snv
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		0.800 1.000 3 2006 2010
dbSNP: rs267607230
rs267607230 		0.925 0.160 19 4110576 missense variant G/A;C;T snv
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		0.800 1.000 3 2006 2010
dbSNP: rs1057519806
rs1057519806 		0.882 0.200 19 4110583 missense variant T/C snv
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		0.700 0
dbSNP: rs1135401787
rs1135401787 		1.000 19 4117531 missense variant A/C;G snv 4.0E-06
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		0.700 0
dbSNP: rs387906800
rs387906800 		1.000 19 4110564 missense variant C/T snv
CUI: C3809007
Disease: CARDIOFACIOCUTANEOUS SYNDROME 4
CARDIOFACIOCUTANEOUS SYNDROME 4 		0.700 0