Source: ALL

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: rs1304037
rs1304037
0.882 0.200 2 112774659 3 prime UTR variant T/C snv 0.32
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.030 1.000 3 2013 2020
dbSNP: rs17561
rs17561
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.030 1.000 3 2013 2015
dbSNP: rs1800587
rs1800587
0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.030 1.000 3 2011 2019
dbSNP: rs1800587
rs1800587
0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.030 0.667 3 2009 2013
dbSNP: rs2856836
rs2856836
0.763 0.280 2 112774506 3 prime UTR variant A/G snv 0.26
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.030 1.000 3 2013 2020
dbSNP: rs3783553
rs3783553
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 1.000 3 2015 2016
dbSNP: rs17561
rs17561
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.020 1.000 2 2011 2013
dbSNP: rs1800587
rs1800587
0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies
0.020 1.000 2 2010 2015
dbSNP: rs1800587
rs1800587
0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32
CUI: C0030193
Disease: Pain
Pain
0.020 1.000 2 2014 2016
dbSNP: rs1800587
rs1800587
0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.020 1.000 2 2010 2018
dbSNP: rs1800587
rs1800587
0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.020 1.000 2 2012 2013
dbSNP: rs1800587
rs1800587
0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32
CUI: C0019270
Disease: Hernia
Hernia
0.020 1.000 2 2014 2014
dbSNP: rs1800587
rs1800587
0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis
0.020 1.000 2 2018 2019
dbSNP: rs1800587
rs1800587
0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32
CUI: C0497327
Disease: Dementia
Dementia
0.020 1.000 2 2012 2013
dbSNP: rs1894399
rs1894399
0.925 0.040 2 112782600 intron variant C/T snv 0.32
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.020 1.000 2 2012 2012
dbSNP: rs3783546
rs3783546
0.882 0.160 2 112777253 intron variant G/C snv 0.70
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.020 0.500 2 2017 2020
dbSNP: rs3783550
rs3783550
0.827 0.200 2 112775308 intron variant G/T snv 0.64 0.70
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.020 0.500 2 2017 2020
dbSNP: rs3783553
rs3783553
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 1.000 2 2009 2014
dbSNP: rs3783553
rs3783553
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.020 1.000 2 2014 2016
dbSNP: rs3783553
rs3783553
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 0.500 2 2015 2018
dbSNP: rs3783553
rs3783553
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.020 1.000 2 2014 2016
dbSNP: rs3783553
rs3783553
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins
Squamous cell carcinoma of oropharynx
0.020 1.000 2 2015 2016
dbSNP: rs3783553
rs3783553
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 1.000 2 2013 2019
dbSNP: rs113129609
rs113129609
0.925 0.080 2 112778091 missense variant A/G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.010 1.000 1 2015 2015
dbSNP: rs113129609
rs113129609
0.925 0.080 2 112778091 missense variant A/G snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 < 0.001 1 2003 2003