Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912670
rs121912670
CHRNG
0.925 0.120 2 232542992 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.800 1.000 2 2006 2006
dbSNP: rs121909506
rs121909506
CHRND
1.000 0.120 2 232528301 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.800 1.000 1 2008 2008
dbSNP: rs137852809
rs137852809
CHRNA1
1.000 0.120 2 174753595 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.800 1.000 1 2008 2008
dbSNP: rs267606726
rs267606726
CHRNG
0.925 0.120 2 232540681 missense variant T/G snv
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.800 0
dbSNP: rs137852801
rs137852801
CHRNA1
0.925 0.120 2 174754242 missense variant C/T snv
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 1.000 3 1982 1997
dbSNP: rs768407867
rs768407867
CHRNA1
0.925 0.160 2 174748177 missense variant C/T snv 4.4E-05 3.5E-05
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 1.000 2 2013 2017
dbSNP: rs121909505
rs121909505
CHRND
1.000 0.120 2 232527436 stop gained G/A;C snv 1.6E-05
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 1.000 1 2008 2008
dbSNP: rs1060499782
rs1060499782
CHRND
1.000 0.120 2 232535130 frameshift variant GA/- delins 7.0E-06
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 0
dbSNP: rs121909507
rs121909507
CHRND
1.000 0.120 2 232535148 stop gained C/T snv 2.1E-05
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 0
dbSNP: rs1553578312
rs1553578312
CHRNG
1.000 0.120 2 232544541 stop gained C/T snv
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 0
dbSNP: rs764266722
rs764266722
CHRNG
0.925 0.120 2 232540387 stop gained C/A;T snv 8.0E-06; 2.0E-05
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 0
dbSNP: rs767503038
rs767503038
CHRNG
0.925 0.120 2 232543030 frameshift variant CT/- del 2.6E-04
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 0
dbSNP: rs1490328834
rs1490328834
GBE1
1.000 0.120 3 81642817 missense variant T/C snv 4.0E-06
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.010 1.000 1 2013 2013