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: 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
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: rs1304037
rs1304037
0.882 0.200 2 112774659 3 prime UTR variant T/C snv 0.32
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
0.010 1.000 1 2017 2017
dbSNP: rs1304037
rs1304037
0.882 0.200 2 112774659 3 prime UTR variant T/C snv 0.32
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.010 1.000 1 2017 2017
dbSNP: rs1516792
rs1516792
0.925 0.080 2 112778356 intron variant G/A snv
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.010 1.000 1 2003 2003
dbSNP: rs1516792
rs1516792
0.925 0.080 2 112778356 intron variant G/A snv
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.010 1.000 1 2003 2003
dbSNP: rs1609682
rs1609682
0.882 0.160 2 112782628 intron variant G/T snv 0.70
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs1609682
rs1609682
0.882 0.160 2 112782628 intron variant G/T snv 0.70
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs1609682
rs1609682
0.882 0.160 2 112782628 intron variant G/T snv 0.70
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs16347
rs16347
0.925 0.080 2 112774138 3 prime UTR variant -/TGAA delins 0.70
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.010 1.000 1 2003 2003
dbSNP: rs16347
rs16347
0.925 0.080 2 112774138 3 prime UTR variant -/TGAA delins 0.70
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.010 1.000 1 2003 2003
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: 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: rs17561
rs17561
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 < 0.001 1 2018 2018
dbSNP: rs17561
rs17561
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 1.000 1 2007 2007
dbSNP: rs17561
rs17561
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 1.000 1 2007 2007
dbSNP: rs17561
rs17561
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 1.000 1 2007 2007
dbSNP: rs17561
rs17561
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2007 2007
dbSNP: rs17561
rs17561
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome
0.010 < 0.001 1 2015 2015
dbSNP: rs17561
rs17561
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.010 1.000 1 2014 2014
dbSNP: rs17561
rs17561
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy
0.010 1.000 1 2018 2018
dbSNP: rs17561
rs17561
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.010 1.000 1 2014 2014
dbSNP: rs17561
rs17561
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.010 < 0.001 1 2018 2018
dbSNP: rs17561
rs17561
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.010 < 0.001 1 2018 2018