Disease: COLE-CARPENTER SYNDROME 2 ×
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: rs760670617
rs760670617 		1.000 4 118723570 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C4225382
Disease: COLE-CARPENTER SYNDROME 2
COLE-CARPENTER SYNDROME 2 		0.800 1.000 1 2015 2015
dbSNP: rs786204846
rs786204846 		1.000 4 118728586 missense variant T/G snv 8.1E-06
CUI: C4225382
Disease: COLE-CARPENTER SYNDROME 2
COLE-CARPENTER SYNDROME 2 		0.800 0
dbSNP: rs786204845
rs786204845 		1.000 4 118815511 stop gained G/A snv
CUI: C4225382
Disease: COLE-CARPENTER SYNDROME 2
COLE-CARPENTER SYNDROME 2 		0.700 0