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: 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: 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
dbSNP: rs397507473
rs397507473
1.000 0.160 7 140781605 missense variant A/G snv 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 1.000 5 2006 2009
dbSNP: rs387907205
rs387907205
0.925 0.160 12 25227313 missense variant A/C;G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 2 2012 2013
dbSNP: rs397507465
rs397507465
1.000 0.160 7 140801542 missense variant T/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 2 2007 2008
dbSNP: rs121434497
rs121434497
0.925 0.160 19 4117552 missense variant A/C;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 1 2006 2006
dbSNP: rs121434499
rs121434499
0.925 0.160 19 4110559 missense variant A/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 1 2008 2008
dbSNP: rs121908594
rs121908594
0.925 0.160 15 66435104 missense variant T/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 1 2006 2006
dbSNP: rs267607230
rs267607230
0.925 0.160 19 4110576 missense variant G/A;C;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 1 2010 2010
dbSNP: rs397507480
rs397507480
1.000 0.160 7 140754233 missense variant A/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 1 2007 2007
dbSNP: rs397516789
rs397516789
1.000 0.160 15 66435070 missense variant C/T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 1 2009 2009
dbSNP: rs397516893
rs397516893
0.925 0.160 7 140778048 missense variant A/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 1 2007 2007
dbSNP: rs180177037
rs180177037
1.000 0.160 7 140778013 missense variant T/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.810 1.000 0 2008 2014
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: 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: 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: 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: rs869025606
rs869025606
1.000 0.160 7 140781609 missense variant A/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 1.000 0 2006 2009
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: rs180177034
rs180177034
0.882 0.200 7 140801536 missense variant C/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.810 1.000 5 2006 2014
dbSNP: rs180177036
rs180177036
0.925 0.200 7 140778053 missense variant C/A;G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 1.000 5 2006 2014
dbSNP: rs180177038
rs180177038
0.851 0.200 7 140778007 missense variant C/G;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 4 2006 2012
dbSNP: rs727504370
rs727504370
0.925 0.200 19 4110558 missense variant T/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 4 2007 2018