Source: CURATED

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: rs121912580
rs121912580
SMAD4
0.807 0.280 18 51067036 missense variant G/A;C;T snv
CUI: C1832942
Disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) 		0.800 1.000 1 2004 2004
dbSNP: rs121912580
rs121912580
SMAD4
0.807 0.280 18 51067036 missense variant G/A;C;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs121912580
rs121912580
SMAD4
0.807 0.280 18 51067036 missense variant G/A;C;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs121912580
rs121912580
SMAD4
0.807 0.280 18 51067036 missense variant G/A;C;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121912580
rs121912580
SMAD4
0.807 0.280 18 51067036 missense variant G/A;C;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs121912580
rs121912580
SMAD4
0.807 0.280 18 51067036 missense variant G/A;C;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121912580
rs121912580
SMAD4
0.807 0.280 18 51067036 missense variant G/A;C;T snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.700 1.000 1 2016 2016