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: rs11119328
rs11119328
HSD11B1 ; HSD11B1-AS1
1.000 1 209711973 intron variant C/A;T snv
CUI: C0233475
Disease: Euthymic mood
Euthymic mood 		0.010 1.000 1 2020 2020
dbSNP: rs11811440
rs11811440
HSD11B1 ; HSD11B1-AS1
1.000 1 209709555 intron variant C/A;T snv
CUI: C0233475
Disease: Euthymic mood
Euthymic mood 		0.010 1.000 1 2020 2020
dbSNP: rs387907168
rs387907168
HSD11B1 ; HSD11B1-AS1
1.000 1 209707020 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C3553382
Disease: CORTISONE REDUCTASE DEFICIENCY 2
CORTISONE REDUCTASE DEFICIENCY 2 		0.700 0
dbSNP: rs12565406
rs12565406
HSD11B1 ; HSD11B1-AS1
1.000 0.040 1 209687741 intron variant G/A;T snv
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.010 1.000 1 2016 2016
dbSNP: rs4393158
rs4393158
HSD11B1-AS1
1.000 0.040 1 209678552 intron variant A/G;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2014 2014
dbSNP: rs4393158
rs4393158
HSD11B1-AS1
1.000 0.040 1 209678552 intron variant A/G;T snv
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.010 1.000 1 2014 2014
dbSNP: rs846906
rs846906
HSD11B1 ; HSD11B1-AS1
1.000 0.040 1 209714373 intron variant T/A;C snv
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2015 2015
dbSNP: rs1000283
rs1000283
HSD11B1 ; HSD11B1-AS1
0.925 0.080 1 209721316 intron variant G/A snv 0.18
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2011 2011
dbSNP: rs1000283
rs1000283
HSD11B1 ; HSD11B1-AS1
0.925 0.080 1 209721316 intron variant G/A snv 0.18
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2011 2011
dbSNP: rs10082248
rs10082248
HSD11B1 ; HSD11B1-AS1
1.000 0.080 1 209693771 intron variant A/G;T snv
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2014 2014
dbSNP: rs11807619
rs11807619
HSD11B1 ; HSD11B1-AS1
0.925 0.080 1 209708028 intron variant G/T snv 0.17
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2008 2008
dbSNP: rs11807619
rs11807619
HSD11B1 ; HSD11B1-AS1
0.925 0.080 1 209708028 intron variant G/T snv 0.17
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs2235543
rs2235543
HSD11B1 ; HSD11B1-AS1
0.925 0.080 1 209687323 intron variant T/A;C snv
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.010 1.000 1 2014 2014
dbSNP: rs2235543
rs2235543
HSD11B1 ; HSD11B1-AS1
0.925 0.080 1 209687323 intron variant T/A;C snv
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.010 1.000 1 2016 2016
dbSNP: rs2235543
rs2235543
HSD11B1 ; HSD11B1-AS1
0.925 0.080 1 209687323 intron variant T/A;C snv
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		0.010 1.000 1 2013 2013
dbSNP: rs2235543
rs2235543
HSD11B1 ; HSD11B1-AS1
0.925 0.080 1 209687323 intron variant T/A;C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2014 2014
dbSNP: rs2298930
rs2298930
HSD11B1 ; HSD11B1-AS1
1.000 0.080 1 209722867 intron variant C/A;T snv 3.5E-02
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2014 2014
dbSNP: rs4545339
rs4545339
HSD11B1-AS1
1.000 0.080 1 209739397 upstream gene variant C/G;T snv
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2014 2014
dbSNP: rs846911
rs846911
HSD11B1 ; HSD11B1-AS1
1.000 0.080 1 209702906 intron variant C/A snv 9.3E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2006 2006
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