Source: UNIPROT

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: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 0.975 10 2004 2020
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 1 2006 2014
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 1 2006 2018
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 1 2008 2014
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 1 2009 2014
dbSNP: rs121913364
rs121913364
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 1.000 14 2002 2015
dbSNP: rs180177032
rs180177032
1.000 0.080 7 140781623 missense variant C/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 1.000 10 2006 2015
dbSNP: rs180177033
rs180177033
1.000 0.080 7 140781620 missense variant A/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 1.000 10 2006 2015
dbSNP: rs121913351
rs121913351
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 1.000 6 2002 2014
dbSNP: rs121913375
rs121913375
0.851 0.240 7 140753339 missense variant G/A;C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 1.000 5 2006 2014
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 4 2006 2012
dbSNP: rs121913348
rs121913348
0.763 0.480 7 140781617 missense variant C/A;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 1.000 4 2002 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 4 2006 2009
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: 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 4 2006 2009
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 4 2006 2009
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: 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 4 2006 2009
dbSNP: rs121913369
rs121913369
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7
0.800 1.000 2 2009 2010
dbSNP: rs121913338
rs121913338
0.677 0.400 7 140753354 missense variant T/A;C;G snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial
0.800 1.000 1 2003 2003
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial
0.800 1.000 1 2003 2003
dbSNP: rs121913357
rs121913357
0.742 0.320 7 140781603 stop gained C/A;G;T snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial
0.800 1.000 1 2003 2003
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 1 2006 2014
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 1 2006 2014
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 1 2006 2014