SMAD7, SMAD family member 7, 4092

N. diseases: 269; N. variants: 21
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: rs4939827
rs4939827
0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
Digestive System Diseases; Neoplasms 0.700 1.000 8 2007 2019
dbSNP: rs7229639
rs7229639
0.763 0.080 18 48924606 intron variant A/G snv 0.87
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
Digestive System Diseases; Neoplasms 0.700 1.000 5 2014 2019
dbSNP: rs11874392
rs11874392
0.763 0.080 18 48926786 intron variant A/T snv 0.50
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
Digestive System Diseases; Neoplasms 0.700 1.000 2 2016 2019
dbSNP: rs7226855
rs7226855
0.790 0.080 18 48927678 intron variant A/G;T snv
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
Digestive System Diseases; Neoplasms 0.700 1.000 2 2015 2019
dbSNP: rs12953717
rs12953717
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
Digestive System Diseases; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4939567
rs4939567
0.790 0.080 18 48925503 intron variant G/A snv 0.47
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
Digestive System Diseases; Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs6507874
rs6507874
0.790 0.080 18 48922435 intron variant T/C snv 0.54
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
Digestive System Diseases; Neoplasms 0.700 1.000 1 2018 2018