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: rs12086634
rs12086634
HSD11B1 ; HSD11B1-AS1
0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.040 1.000 4 2011 2017
dbSNP: rs12086634
rs12086634
HSD11B1 ; HSD11B1-AS1
0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.030 1.000 3 2006 2011
dbSNP: rs12086634
rs12086634
HSD11B1 ; HSD11B1-AS1
0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 1.000 2 2011 2017
dbSNP: rs12086634
rs12086634
HSD11B1 ; HSD11B1-AS1
0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 1.000 1 2006 2006
dbSNP: rs12086634
rs12086634
HSD11B1 ; HSD11B1-AS1
0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2006 2006
dbSNP: rs12086634
rs12086634
HSD11B1 ; HSD11B1-AS1
0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20
CUI: C1392786
Disease: Cognitive changes
Cognitive changes 		0.010 1.000 1 2006 2006
dbSNP: rs4844880
rs4844880
HSD11B1 ; HSD11B1-AS1
0.882 0.240 1 209697571 intron variant A/T snv 0.70
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs4844880
rs4844880
HSD11B1 ; HSD11B1-AS1
0.882 0.240 1 209697571 intron variant A/T snv 0.70
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.010 1.000 1 2016 2016
dbSNP: rs4844880
rs4844880
HSD11B1 ; HSD11B1-AS1
0.882 0.240 1 209697571 intron variant A/T snv 0.70
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal 		0.010 1.000 1 2012 2012
dbSNP: rs4844880
rs4844880
HSD11B1 ; HSD11B1-AS1
0.882 0.240 1 209697571 intron variant A/T snv 0.70
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs3753519
rs3753519
HSD11B1 ; HSD11B1-AS1
0.925 0.200 1 209702170 intron variant T/A;C snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs3753519
rs3753519
HSD11B1 ; HSD11B1-AS1
0.925 0.200 1 209702170 intron variant T/A;C snv
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2012 2012
dbSNP: rs846910
rs846910
HSD11B1 ; HSD11B1-AS1
0.882 0.160 1 209701909 intron variant A/G snv 0.95
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.020 1.000 2 2011 2017
dbSNP: rs846910
rs846910
HSD11B1 ; HSD11B1-AS1
0.882 0.160 1 209701909 intron variant A/G snv 0.95
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2017 2017
dbSNP: rs846910
rs846910
HSD11B1 ; HSD11B1-AS1
0.882 0.160 1 209701909 intron variant A/G snv 0.95
CUI: C1392786
Disease: Cognitive changes
Cognitive changes 		0.010 1.000 1 2006 2006
dbSNP: rs846910
rs846910
HSD11B1 ; HSD11B1-AS1
0.882 0.160 1 209701909 intron variant A/G snv 0.95
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2004 2004
dbSNP: rs846910
rs846910
HSD11B1 ; HSD11B1-AS1
0.882 0.160 1 209701909 intron variant A/G snv 0.95
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.010 1.000 1 2011 2011
dbSNP: rs846910
rs846910
HSD11B1 ; HSD11B1-AS1
0.882 0.160 1 209701909 intron variant A/G snv 0.95
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		0.010 1.000 1 2013 2013
dbSNP: rs45487298
rs45487298
HSD11B1 ; HSD11B1-AS1
0.882 0.120 1 209706871 intron variant -/A delins
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2019 2019
dbSNP: rs45487298
rs45487298
HSD11B1 ; HSD11B1-AS1
0.882 0.120 1 209706871 intron variant -/A delins
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2019 2019
dbSNP: rs45487298
rs45487298
HSD11B1 ; HSD11B1-AS1
0.882 0.120 1 209706871 intron variant -/A delins
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 1.000 1 2015 2015
dbSNP: rs746481995
rs746481995
HSD11B1 ; HSD11B1-AS1
0.882 0.120 1 209707123 missense variant T/C snv 4.0E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 1.000 1 2018 2018
dbSNP: rs746481995
rs746481995
HSD11B1 ; HSD11B1-AS1
0.882 0.120 1 209707123 missense variant T/C snv 4.0E-06
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		0.010 1.000 1 2018 2018
dbSNP: rs746481995
rs746481995
HSD11B1 ; HSD11B1-AS1
0.882 0.120 1 209707123 missense variant T/C snv 4.0E-06
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 1.000 1 2018 2018
dbSNP: rs846908
rs846908
HSD11B1 ; HSD11B1-AS1
1.000 0.120 1 209685108 intron variant A/G snv 0.97
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.010 1.000 1 2015 2015