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: rs145013566
rs145013566
PNKD
2 218297998 intron variant -/C ins
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs1870123
rs1870123
PNKD ; LOC105373881
2 218322975 intron variant G/A;C snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs1870125
rs1870125
PNKD ; LOC105373881
2 218323178 5 prime UTR variant C/G;T snv
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs1870125
rs1870125
PNKD ; LOC105373881
2 218323178 5 prime UTR variant C/G;T snv
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs1877712
rs1877712
PNKD
2 218303709 intron variant G/A snv 0.43
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs1877712
rs1877712
PNKD
2 218303709 intron variant G/A snv 0.43
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2017 2017
dbSNP: rs2271543
rs2271543
PNKD ; TMBIM1
2 218277768 intron variant C/T snv 0.35
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.700 1.000 1 2019 2019
dbSNP: rs2292553
rs2292553
PNKD ; TMBIM1 ; MIR6513
2 218282080 missense variant G/A snv 0.55 0.43
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2292553
rs2292553
PNKD ; TMBIM1 ; MIR6513
2 218282080 missense variant G/A snv 0.55 0.43
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		0.700 1.000 1 2018 2018
dbSNP: rs2382817
rs2382817
PNKD ; TMBIM1
0.925 0.040 2 218286495 5 prime UTR variant A/C snv 0.61
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.700 1.000 1 2015 2015
dbSNP: rs2382817
rs2382817
PNKD ; TMBIM1
0.925 0.040 2 218286495 5 prime UTR variant A/C snv 0.61
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 1.000 1 2015 2015
dbSNP: rs2382818
rs2382818
PNKD ; TMBIM1
2 218291184 intron variant A/T snv 0.36
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs34001204
rs34001204
PNKD ; LOC105373880 ; LOC105373881
2 218314933 intron variant A/- del 0.44
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs3731861
rs3731861
PNKD ; CATIP-AS2
0.776 0.080 2 218326533 intron variant T/C snv 0.32
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		0.700 1.000 1 2019 2019
dbSNP: rs3731861
rs3731861
PNKD ; CATIP-AS2
0.776 0.080 2 218326533 intron variant T/C snv 0.32
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 1 2019 2019
dbSNP: rs3731861
rs3731861
PNKD ; CATIP-AS2
0.776 0.080 2 218326533 intron variant T/C snv 0.32
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 1.000 1 2019 2019
dbSNP: rs3731861
rs3731861
PNKD ; CATIP-AS2
0.776 0.080 2 218326533 intron variant T/C snv 0.32
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2019 2019
dbSNP: rs3731861
rs3731861
PNKD ; CATIP-AS2
0.776 0.080 2 218326533 intron variant T/C snv 0.32
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs3731861
rs3731861
PNKD ; CATIP-AS2
0.776 0.080 2 218326533 intron variant T/C snv 0.32
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 1.000 1 2019 2019
dbSNP: rs3731861
rs3731861
PNKD ; CATIP-AS2
0.776 0.080 2 218326533 intron variant T/C snv 0.32
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2019 2019
dbSNP: rs3731861
rs3731861
PNKD ; CATIP-AS2
0.776 0.080 2 218326533 intron variant T/C snv 0.32
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.700 1.000 1 2019 2019
dbSNP: rs3731861
rs3731861
PNKD ; CATIP-AS2
0.776 0.080 2 218326533 intron variant T/C snv 0.32
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019
dbSNP: rs3731861
rs3731861
PNKD ; CATIP-AS2
0.776 0.080 2 218326533 intron variant T/C snv 0.32
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 2019
dbSNP: rs4674280
rs4674280
PNKD ; TMBIM1
2 218276735 intron variant C/G snv 0.50
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs4674280
rs4674280
PNKD ; TMBIM1
2 218276735 intron variant C/G snv 0.50
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2016 2016