Source: BEFREE

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: rs10010131
rs10010131
WFS1
0.827 0.120 4 6291188 intron variant A/G snv 0.66 0.63
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.010 1.000 1 2009 2009
dbSNP: rs1001030257
rs1001030257
PDE4D
5 58988559 missense variant T/C snv 2.0E-05 2.1E-05
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.010 1.000 1 2009 2009
dbSNP: rs10011025
rs10011025
GLRA3
1.000 0.120 4 174733072 intron variant A/C;G snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 1.000 1 2018 2018
dbSNP: rs10011540
rs10011540
UCP1
1.000 0.080 4 140568842 5 prime UTR variant T/G snv 0.10
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2006 2006
dbSNP: rs1001164504
rs1001164504
FIGLA
1.000 0.080 2 70790637 start lost A/G snv 3.5E-05
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.010 1.000 1 2019 2019
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.010 1.000 1 2015 2015
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.010 < 0.001 1 2018 2018
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.010 1.000 1 2008 2008
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 1.000 1 2016 2016
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0752304
Disease: Hypoxic-Ischemic Encephalopathy
Hypoxic-Ischemic Encephalopathy 		0.010 1.000 1 2016 2016
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2016 2016
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		0.010 1.000 1 2013 2013
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2013 2013
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2014 2014
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2008 2008
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C3146264
Disease: Stage IV Prostate Cancer AJCC v7
Stage IV Prostate Cancer AJCC v7 		0.010 1.000 1 2015 2015
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2016 2016
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0278837
Disease: Stage IV Prostate Carcinoma
Stage IV Prostate Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2016 2016
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.010 1.000 1 2017 2017
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.010 1.000 1 2015 2015