SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs377767347
rs377767347
0.742 0.520 18 51065549 missense variant G/A;C;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 8 1996 2016
dbSNP: rs80338963
rs80338963
0.776 0.280 18 51065548 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 8 1996 2016
dbSNP: rs1057519739
rs1057519739
1.000 0.080 18 51065518 missense variant G/A;C snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 7 1996 2007
dbSNP: rs1057519740
rs1057519740
18 51065532 missense variant C/A snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 7 1996 2007
dbSNP: rs1057519741
rs1057519741
18 51078417 missense variant G/T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 7 1996 2007
dbSNP: rs281875324
rs281875324
1.000 0.120 18 51065456 missense variant A/C;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 7 1996 2007
dbSNP: rs1057519962
rs1057519962
0.827 0.160 18 51067035 missense variant G/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs121912580
rs121912580
0.807 0.280 18 51067036 missense variant G/A;C;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016