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: 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: rs121913340
rs121913340
1.000 0.120 7 140753379 missense variant C/T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.700 0
dbSNP: rs397507470
rs397507470
1.000 0.160 7 140801488 missense variant G/T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 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: rs397507486
rs397507486
1.000 0.160 7 140739813 missense variant T/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 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: 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: rs606231228
rs606231228
0.925 0.160 7 140777013 missense variant C/A;G snv
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7
0.800 1.000 1 2010 2010
dbSNP: rs869025340
rs869025340
0.925 0.160 7 140777032 missense variant A/C;G;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 0
dbSNP: rs397507476
rs397507476
0.882 0.200 7 140778011 missense variant T/A;G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 4 2006 2009
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: 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: 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: rs121913351
rs121913351
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma
0.800 1.000 0 2013 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: 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: 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: 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: 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
dbSNP: rs387906661
rs387906661
0.807 0.280 7 140801551 missense variant T/G snv
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3
0.800 1.000 1 2009 2009
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: rs121913341
rs121913341
0.851 0.280 7 140753350 missense variant A/C;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.700 0
dbSNP: rs121913361
rs121913361
0.807 0.280 7 140753349 missense variant C/A;G;T snv
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
0.700 0