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: rs2010963
rs2010963
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1(finding)
0.700 0
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.020 < 0.001 2 2016 2019
dbSNP: rs2146323
rs2146323
0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.020 < 0.001 2 2010 2016
dbSNP: rs2146323
rs2146323
0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.020 < 0.001 2 2010 2016
dbSNP: rs699947
rs699947
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.020 < 0.001 2 2013 2016
dbSNP: rs699947
rs699947
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.020 < 0.001 2 2013 2016
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.010 < 0.001 1 2008 2008
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.010 < 0.001 1 2010 2010
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 < 0.001 1 2008 2008
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 < 0.001 1 2008 2008
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.010 < 0.001 1 2008 2008
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0007971
Disease: Cheilitis
Cheilitis
0.010 < 0.001 1 2008 2008
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0042384
Disease: Vasculitis
Vasculitis
0.010 < 0.001 1 2014 2014
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction
0.010 < 0.001 1 2011 2011
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0013537
Disease: Eclampsia
Eclampsia
0.010 < 0.001 1 2013 2013
dbSNP: rs1243046808
rs1243046808
0.925 0.160 6 43770758 missense variant C/G;T snv 2.0E-05; 9.8E-06
Diabetes Mellitus, Non-Insulin-Dependent
0.010 < 0.001 1 2005 2005
dbSNP: rs1243046808
rs1243046808
0.925 0.160 6 43770758 missense variant C/G;T snv 2.0E-05; 9.8E-06
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
0.010 < 0.001 1 2005 2005
dbSNP: rs1570360
rs1570360
0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 < 0.001 1 2018 2018
dbSNP: rs2010963
rs2010963
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.010 < 0.001 1 2013 2013
dbSNP: rs2010963
rs2010963
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 < 0.001 1 2014 2014
dbSNP: rs2010963
rs2010963
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 < 0.001 1 2014 2014
dbSNP: rs2010963
rs2010963
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.010 < 0.001 1 2019 2019
dbSNP: rs2010963
rs2010963
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy
0.010 < 0.001 1 2014 2014
dbSNP: rs2146323
rs2146323
0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.010 < 0.001 1 2010 2010
dbSNP: rs2146323
rs2146323
0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.010 < 0.001 1 2010 2010