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: 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: 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: 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: 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: 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: rs121913348
rs121913348
0.763 0.480 7 140781617 missense variant C/A;G;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 4 2003 2008
dbSNP: rs121913364
rs121913364
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 1.000 4 2006 2016
dbSNP: rs121913369
rs121913369
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 4 2004 2012
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: rs180177042
rs180177042
0.807 0.280 7 140749365 missense variant A/C;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 1.000 4 2006 2014
dbSNP: rs397507483
rs397507483
0.790 0.400 7 140753348 missense variant C/A;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 1.000 4 2006 2009
dbSNP: rs121913341
rs121913341
0.851 0.280 7 140753350 missense variant A/C;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 1.000 3 2006 2012
dbSNP: rs180177041
rs180177041
0.851 0.240 7 140777006 missense variant C/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 3 2006 2008
dbSNP: rs387906661
rs387906661
0.807 0.280 7 140801551 missense variant T/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 1.000 3 2006 2009
dbSNP: rs397507475
rs397507475
0.925 0.200 7 140778054 missense variant A/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.710 1.000 3 2007 2012
dbSNP: rs397507484
rs397507484
0.752 0.480 7 140753333 missense variant T/A;C;G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 3 2009 2014
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 1.000 2 2006 2009
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: rs397507466
rs397507466
0.807 0.280 7 140801537 missense variant T/A;C;G snv 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.810 1.000 2 2009 2014
dbSNP: rs397516904
rs397516904
0.925 0.200 7 140801487 missense variant T/C;G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 2 2007 2008
dbSNP: rs794729219
rs794729219
0.882 0.240 7 140753352 missense variant A/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 2 2006 2008
dbSNP: rs397507469
rs397507469
0.882 0.200 7 140801503 missense variant G/T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 1 2007 2007
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: 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