Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908569
rs121908569 		1.000 0.200 2 88583430 missense variant C/T snv
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Immune System Diseases; Endocrine System Diseases 0.800 1.000 1 2000 2000
dbSNP: rs7571971
rs7571971 		1.000 0.120 2 88595833 non coding transcript exon variant T/C snv 0.70 0.77
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs11684404
rs11684404 		2 88625104 intron variant T/C snv 0.28
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2010 2014
dbSNP: rs11681299
rs11681299 		2 88602214 intron variant C/T snv 0.24
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs11684404
rs11684404 		2 88625104 intron variant T/C snv 0.28
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs11898161
rs11898161 		2 88582130 intron variant G/A snv 0.77
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs7571971
rs7571971 		1.000 0.120 2 88595833 non coding transcript exon variant T/C snv 0.70 0.77
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs864621972
rs864621972 		1.000 0.200 2 88588875 stop gained G/A snv
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs867529
rs867529 		1.000 0.080 2 88613755 missense variant G/C snv 0.30 0.23
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2015 2015
dbSNP: rs867529
rs867529 		1.000 0.080 2 88613755 missense variant G/C snv 0.30 0.23
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2011 2011
dbSNP: rs121908570
rs121908570 		1.000 0.200 2 88590826 stop gained C/A;G snv 1.2E-05
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1553407942
rs1553407942 		1.000 0.200 2 88574725 stop gained G/A snv
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1558652941
rs1558652941 		1.000 0.200 2 88585918 frameshift variant TTTC/- delins
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs797045558
rs797045558 		1.000 0.200 2 88585926 frameshift variant AC/- delins
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs869025178
rs869025178 		1.000 0.200 2 88590572 frameshift variant -/A delins
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs869025179
rs869025179 		1.000 0.200 2 88570873 splice donor variant C/T snv
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs761374228
rs761374228 		1.000 0.040 2 88579603 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.020 1.000 2 2016 2018
dbSNP: rs1003629254
rs1003629254 		0.925 0.080 2 88595599 missense variant C/G;T snv
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1003629254
rs1003629254 		0.925 0.080 2 88595599 missense variant C/G;T snv
CUI: C4049702
Disease: Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Focal Segmental Glomerulosclerosis, Not Otherwise Specified 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1201810520
rs1201810520 		0.925 0.160 2 88590497 missense variant C/T snv
CUI: C0027613
Disease: Neonatal hepatitis
Neonatal hepatitis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Infections 0.010 1.000 1 2012 2012
dbSNP: rs1201810520
rs1201810520 		0.925 0.160 2 88590497 missense variant C/T snv
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1383983021
rs1383983021 		0.882 0.160 2 88588014 missense variant T/C snv
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs1383983021
rs1383983021 		0.882 0.160 2 88588014 missense variant T/C snv
CUI: C3495549
Disease: Patent ductus arteriosus - persisting type
Patent ductus arteriosus - persisting type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs1383983021
rs1383983021 		0.882 0.160 2 88588014 missense variant T/C snv
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		Digestive System Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs147458427
rs147458427 		1.000 0.080 2 88593320 missense variant C/T snv 5.0E-04 6.1E-04
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019