Source: GWASDB

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: rs6025
rs6025
F5
0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.800 0.941 1 1995 2019
dbSNP: rs1799990
rs1799990
PRNP
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.900 1.000 1 1996 2015
dbSNP: rs1801282
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.902 2 1997 2018
dbSNP: rs6025
rs6025
F5
0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.900 1.000 2 1997 2019
dbSNP: rs5219
rs5219
KCNJ11
0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.906 3 1998 2019
dbSNP: rs10800812
rs10800812 		1.000 0.080 1 202086810 intergenic variant A/G snv 0.77
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2000 2000
dbSNP: rs1229598
rs1229598 		1.000 0.080 18 56267556 regulatory region variant A/C;G;T snv
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2000 2000
dbSNP: rs17064520
rs17064520
NEDD4L
1.000 0.080 18 58242398 intron variant C/T snv 0.19
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2000 2000
dbSNP: rs2153101
rs2153101 		1.000 0.080 1 203199346 intergenic variant A/T snv 0.84
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2000 2000
dbSNP: rs2538026
rs2538026 		1.000 0.080 18 56261410 intergenic variant A/C;G snv
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2000 2000
dbSNP: rs4436440
rs4436440 		1.000 0.080 1 202082885 TF binding site variant T/A snv 0.80
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2000 2000
dbSNP: rs4950929
rs4950929 		1.000 0.080 1 203190998 upstream gene variant G/T snv 0.84
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2000 2000
dbSNP: rs545854
rs545854 		0.882 0.160 8 10002570 intron variant G/C snv 0.85
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2000 2000
dbSNP: rs946263
rs946263 		1.000 0.080 1 203196253 intergenic variant G/A snv 0.86
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2000 2000
dbSNP: rs2066845
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		1.000 0.949 3 2001 2019
dbSNP: rs2066844
rs2066844
NOD2
0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		1.000 0.940 2 2001 2018
dbSNP: rs671
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.780 1.000 2 2001 2019
dbSNP: rs671
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.880 1.000 1 2001 2019
dbSNP: rs2066842
rs2066842
NOD2
0.763 0.200 16 50710713 missense variant C/A;T snv 4.0E-06; 0.19
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.790 1.000 1 2002 2014
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		1.000 0.950 4 2004 2020
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.900 1.000 1 2004 2019
dbSNP: rs1800574
rs1800574
HNF1A ; HNF1A-AS1
0.882 0.080 12 120979061 missense variant C/T snv 2.9E-02 2.2E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.850 0.857 1 2004 2018
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		1.000 0.877 8 2005 2019
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.900 0.936 4 2005 2019
dbSNP: rs2066847
rs2066847
NOD2
0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.890 0.923 4 2005 2019