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: 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 1 2001 2018
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 1 2001 2019
dbSNP: rs10033464
rs10033464 		0.807 0.200 4 110799605 downstream gene variant T/G snv 0.86
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.900 0.933 1 2007 2019
dbSNP: rs1051730
rs1051730
CHRNA3
0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.900 1.000 1 2010 2018
dbSNP: rs10757274
rs10757274
CDKN2B-AS1
0.701 0.320 9 22096056 intron variant A/G snv 0.41
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.900 1.000 1 2008 2016
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
0.620 0.520 9 22124478 intron variant A/G snv 0.40
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.900 0.923 1 2007 2019
dbSNP: rs10994336
rs10994336
ANK3
0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.900 0.933 1 2008 2018
dbSNP: rs1127354
rs1127354
ITPA
0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0002871
Disease: Anemia
Anemia 		0.900 0.900 1 2010 2020
dbSNP: rs11931074
rs11931074
SNCA ; LOC105377329
0.851 0.080 4 89718364 intron variant G/A;C;T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.900 1.000 1 2009 2020
dbSNP: rs12807809
rs12807809 		0.882 0.160 11 124736389 upstream gene variant T/C snv 0.20
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.900 0.875 1 2009 2019
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.900 1.000 1 2007 2018
dbSNP: rs1344706
rs1344706
ZNF804A
0.701 0.160 2 184913701 intron variant A/C;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.900 0.873 1 2008 2019
dbSNP: rs1410996
rs1410996
CFH
0.807 0.240 1 196727803 intron variant G/A snv 0.46
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.900 0.929 1 2007 2019
dbSNP: rs17401966
rs17401966
KIF1B
0.790 0.280 1 10325413 intron variant A/G snv 0.24
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.900 0.833 1 2010 2019
dbSNP: rs17782313
rs17782313 		0.683 0.480 18 60183864 intergenic variant T/C snv 0.24
CUI: C0028754
Disease: Obesity
Obesity 		0.900 0.905 1 2008 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: rs2076530
rs2076530
BTNL2 ; TSBP1-AS1
0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.900 0.933 1 2005 2019
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.900 0.938 1 2010 2019
dbSNP: rs2373115
rs2373115
GAB2
0.925 0.080 11 78380104 intron variant C/A snv 0.24
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 0.750 1 2007 2018
dbSNP: rs2435357
rs2435357
RET
0.790 0.240 10 43086608 intron variant T/C snv 0.79
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.900 0.923 1 2011 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.900 0.857 1 2005 2019
dbSNP: rs2596542
rs2596542
MICA ; MICA-AS1
0.724 0.200 6 31398818 upstream gene variant C/T snv 0.41
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.900 1.000 1 2011 2019
dbSNP: rs2943641
rs2943641 		0.763 0.160 2 226229029 intergenic variant T/C snv 0.67
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.923 1 2009 2018
dbSNP: rs34637584
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.900 0.996 1 2005 2020
dbSNP: rs34778348
rs34778348
LRRK2 ; LOC105369736
0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.900 0.925 1 2006 2019