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: rs121913337
rs121913337
0.925 0.200 7 140753353 missense variant A/C;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 0
dbSNP: rs121913349
rs121913349
0.925 0.200 7 140781618 missense variant C/G;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 0
dbSNP: rs121913378
rs121913378
0.776 0.280 7 140753337 missense variant C/A;G;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 0
dbSNP: rs387906660
rs387906660
0.790 0.280 7 140801550 missense variant G/A;C;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 0
dbSNP: rs397507474
rs397507474
1.000 0.160 7 140778061 missense variant T/C;G snv 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 0
dbSNP: rs397507478
rs397507478
0.790 0.440 7 140777014 missense variant C/A snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 0
dbSNP: rs397507479
rs397507479
1.000 0.160 7 140777011 missense variant C/T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 0
dbSNP: rs397507481
rs397507481
0.882 0.240 7 140754206 missense variant G/C;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 0
dbSNP: rs397516791
rs397516791
1.000 0.160 15 66435221 missense variant T/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 0
dbSNP: rs397516892
rs397516892
1.000 0.160 7 140778066 missense variant G/T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 0
dbSNP: rs397516894
rs397516894
1.000 0.160 7 140754208 missense variant G/A;C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 0
dbSNP: rs397516903
rs397516903
0.925 0.200 7 140801533 missense variant A/C;G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 0
dbSNP: rs727502904
rs727502904
0.925 0.200 7 140734763 missense variant G/A;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 0
dbSNP: rs727504375
rs727504375
0.925 0.200 7 140778059 missense variant T/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 0
dbSNP: rs727504382
rs727504382
0.925 0.200 19 4101105 missense variant C/T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 0
dbSNP: rs730880517
rs730880517
1.000 0.160 19 4117541 missense variant T/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 0
dbSNP: rs869025607
rs869025607
1.000 0.160 7 140781598 inframe deletion GTT/- delins
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 0
dbSNP: rs180177035
rs180177035
0.752 0.280 7 140801502 missense variant T/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.810 1.000 18 2006 2018
dbSNP: rs121908595
rs121908595
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.720 1.000 13 2006 2018
dbSNP: rs180177040
rs180177040
0.790 0.360 7 140754187 missense variant T/C;G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 1.000 12 2006 2014
dbSNP: rs104894360
rs104894360
0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.710 1.000 7 2006 2008
dbSNP: rs104894365
rs104894365
0.827 0.320 12 25245345 missense variant C/T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 6 2006 2011
dbSNP: rs180177039
rs180177039
0.851 0.160 7 140778006 missense variant T/A;C;G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 6 2006 2008
dbSNP: rs397516792
rs397516792
0.827 0.280 15 66436825 missense variant C/A;G;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 6 2007 2017
dbSNP: rs397516793
rs397516793
0.925 0.160 15 66436842 missense variant T/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 6 2006 2018