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: rs10129516
rs10129516
LOC105370531
1.000 0.040 14 63133372 intron variant T/A;C snv
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.710 < 0.001 1 2017 2017
dbSNP: rs13303010
rs13303010
NOC2L ; KLHL17
0.925 0.120 1 959193 intron variant G/A snv 0.82 0.69
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.710 < 0.001 1 2018 2018
dbSNP: rs144432435
rs144432435 		0.925 0.080 10 43063942 intergenic variant C/T snv 1.2E-02
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.710 < 0.001 1 2018 2018
dbSNP: rs16992204
rs16992204
LINC00160 ; LOC107985515
0.925 0.080 21 34738904 upstream gene variant T/C snv 2.5E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.710 < 0.001 1 2016 2016
dbSNP: rs2284378
rs2284378
RALY
0.851 0.080 20 34000289 intron variant T/C;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.710 < 0.001 1 2012 2012
dbSNP: rs2941471
rs2941471
HNF4G
0.851 0.240 8 75558169 intron variant G/A snv 0.65
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.710 < 0.001 1 2018 2018
dbSNP: rs4795218
rs4795218
HNF1B ; LOC105371754
0.925 0.120 17 37718512 intron variant A/G snv 0.82
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.710 < 0.001 1 2018 2018
dbSNP: rs61211515
rs61211515 		1.000 0.120 6 30133199 upstream gene variant TT/-;T;TTT;TTTT delins 0.14
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.710 < 0.001 1 2018 2018
dbSNP: rs6025
rs6025
F5
0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.740 0.400 1 1996 2016
dbSNP: rs1517037
rs1517037 		0.882 0.120 18 59211042 intergenic variant C/T snv 0.23
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.710 0.500 2 2015 2018
dbSNP: rs1122608
rs1122608
SMARCA4
0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.810 0.500 1 2009 2014
dbSNP: rs11644034
rs11644034 		1.000 0.080 16 85939006 intron variant G/A snv 0.19
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.710 0.500 1 2014 2015
dbSNP: rs11674184
rs11674184
GREB1
1.000 0.040 2 11581409 intron variant T/A;G snv
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.710 0.500 1 2017 2019
dbSNP: rs11742270
rs11742270 		1.000 0.040 5 35881341 downstream gene variant G/A snv 0.20
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.710 0.500 1 2013 2016
dbSNP: rs11868035
rs11868035
SREBF1 ; RAI1
0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.840 0.500 1 2011 2019
dbSNP: rs11966200
rs11966200
CYP21A2 ; SLC44A4
0.851 0.040 6 31869289 intron variant C/T snv 2.9E-02 4.5E-02
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.810 0.500 1 2010 2013
dbSNP: rs13041247
rs13041247
LOC102724968
0.851 0.200 20 40640434 regulatory region variant T/C snv 0.36
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.710 0.500 1 2010 2015
dbSNP: rs13208776
rs13208776
SMOC2
0.882 0.040 6 168540944 intron variant G/A;C snv
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.810 0.500 1 2010 2011
dbSNP: rs1420101
rs1420101
IL18R1 ; IL1RL1
0.827 0.280 2 102341256 synonymous variant C/T snv 0.33 0.35
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps 		0.710 0.500 1 2010 2019
dbSNP: rs16851720
rs16851720
RNF7
0.827 0.120 3 141744456 intron variant A/C snv 0.21
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.810 0.500 1 2012 2017
dbSNP: rs1734787
rs1734787
MECP2
1.000 0.080 X 154059995 non coding transcript exon variant A/C snv 0.17
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.710 0.500 1 2015 2015
dbSNP: rs1795061
rs1795061 		1.000 0.040 1 214235937 intergenic variant T/C;G snv
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		0.710 0.500 1 2017 2020
dbSNP: rs1878406
rs1878406 		0.807 0.200 4 147472512 intergenic variant C/A;G;T snv
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.810 0.500 1 2011 2014
dbSNP: rs2059807
rs2059807
INSR
0.851 0.200 19 7166098 intron variant A/G;T snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.830 0.500 1 2011 2020
dbSNP: rs2075555
rs2075555
COL1A1
0.807 0.240 17 50196930 intron variant T/A;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.710 0.500 1 2007 2011