Source: GWASCAT

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: rs2382817
rs2382817
PNKD ; TMBIM1
0.925 0.040 2 218286495 5 prime UTR variant A/C snv 0.61
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.810 1.000 2 2012 2017
dbSNP: rs992157
rs992157
PNKD ; TMBIM1
0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.730 1.000 2 2016 2019
dbSNP: rs992157
rs992157
PNKD ; TMBIM1
0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 1.000 2 2018 2019
dbSNP: rs992157
rs992157
PNKD ; TMBIM1
0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 2 2018 2019
dbSNP: rs992157
rs992157
PNKD ; TMBIM1
0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 1.000 2 2018 2019
dbSNP: rs992157
rs992157
PNKD ; TMBIM1
0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 2 2018 2019
dbSNP: rs992157
rs992157
PNKD ; TMBIM1
0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 2 2018 2019
dbSNP: rs992157
rs992157
PNKD ; TMBIM1
0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 2 2018 2019
dbSNP: rs992157
rs992157
PNKD ; TMBIM1
0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		0.700 1.000 2 2018 2019
dbSNP: rs992157
rs992157
PNKD ; TMBIM1
0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 2 2018 2019
dbSNP: rs1017698
rs1017698
PNKD ; LOC105373881
2 218305802 intron variant G/A;C snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs10716631
rs10716631
PNKD
2 218273447 intron variant T/G snv
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs13020391
rs13020391
PNKD ; LOC105373881
0.790 0.080 2 218319713 intron variant C/T snv 0.32
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 1.000 1 2019 2019
dbSNP: rs13020391
rs13020391
PNKD ; LOC105373881
0.790 0.080 2 218319713 intron variant C/T snv 0.32
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019
dbSNP: rs13020391
rs13020391
PNKD ; LOC105373881
0.790 0.080 2 218319713 intron variant C/T snv 0.32
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 2019
dbSNP: rs13020391
rs13020391
PNKD ; LOC105373881
0.790 0.080 2 218319713 intron variant C/T snv 0.32
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2019 2019
dbSNP: rs13020391
rs13020391
PNKD ; LOC105373881
0.790 0.080 2 218319713 intron variant C/T snv 0.32
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 1 2019 2019
dbSNP: rs13020391
rs13020391
PNKD ; LOC105373881
0.790 0.080 2 218319713 intron variant C/T snv 0.32
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 1.000 1 2019 2019
dbSNP: rs13020391
rs13020391
PNKD ; LOC105373881
0.790 0.080 2 218319713 intron variant C/T snv 0.32
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2019 2019
dbSNP: rs13020391
rs13020391
PNKD ; LOC105373881
0.790 0.080 2 218319713 intron variant C/T snv 0.32
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs13020391
rs13020391
PNKD ; LOC105373881
0.790 0.080 2 218319713 intron variant C/T snv 0.32
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		0.700 1.000 1 2019 2019
dbSNP: rs145013566
rs145013566
PNKD
2 218297998 intron variant -/C ins
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs145013566
rs145013566
PNKD
2 218297998 intron variant -/C ins
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs145013566
rs145013566
PNKD
2 218297998 intron variant -/C ins
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs145013566
rs145013566
PNKD
2 218297998 intron variant -/C ins
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016