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: rs104893939
rs104893939 		0.925 0.040 5 147831537 missense variant A/C;G snv
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.800 1.000 5 2000 2010
dbSNP: rs104893939
rs104893939 		0.925 0.040 5 147831537 missense variant A/C;G snv
CUI: C4080064
Disease: Autosomal Dominant Hereditary Pancreatitis
Autosomal Dominant Hereditary Pancreatitis 		Digestive System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs4705205
rs4705205 		5 147839250 intergenic variant C/T snv 0.59
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs104893938
rs104893938 		1.000 0.040 5 147831576 start lost A/G snv
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs1554089895
rs1554089895 		1.000 0.040 5 147829598 splice donor variant C/T snv
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs1561606446
rs1561606446 		1.000 0.040 5 147831522 splice donor variant C/A snv
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs369163833
rs369163833 		1.000 0.040 5 147831577 start lost T/A;C snv 7.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs515726207
rs515726207 		1.000 0.040 5 147828056 missense variant A/G snv
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs515726206
rs515726206 		1.000 0.040 5 147828066 missense variant A/C snv 4.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs193922659
rs193922659 		1.000 0.040 5 147831551 frameshift variant G/- del 1.2E-05 2.1E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 1.000 2 2004 2012
dbSNP: rs576564400
rs576564400 		1.000 0.040 5 147824695 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs515726208
rs515726208 		1.000 0.040 5 147824702 missense variant G/A snv 3.2E-05 1.4E-05
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		Digestive System Diseases 0.020 1.000 2 2001 2003
dbSNP: rs148954387
rs148954387 		0.882 0.080 5 147828020 splice donor variant A/G;T snv 3.1E-04
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 1.000 7 2000 2015
dbSNP: rs148954387
rs148954387 		0.882 0.080 5 147828020 splice donor variant A/G;T snv 3.1E-04
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs148954387
rs148954387 		0.882 0.080 5 147828020 splice donor variant A/G;T snv 3.1E-04
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		Digestive System Diseases 0.700 0
dbSNP: rs111966833
rs111966833 		0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.020 1.000 2 2005 2006
dbSNP: rs111966833
rs111966833 		0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.020 1.000 2 2005 2006
dbSNP: rs111966833
rs111966833 		0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03
CUI: C0394005
Disease: Ataxic cerebral palsy
Ataxic cerebral palsy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs111966833
rs111966833 		0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03
CUI: C0339985
Disease: Idiopathic bronchiectasis
Idiopathic bronchiectasis 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs111966833
rs111966833 		0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		Digestive System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs111966833
rs111966833 		0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03
CUI: C0271642
Disease: Fibrocalculous pancreatic diabetes
Fibrocalculous pancreatic diabetes 		0.010 1.000 1 2002 2002
dbSNP: rs111966833
rs111966833 		0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs111966833
rs111966833 		0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03
CUI: C0431129
Disease: Adamantinous Craniopharyngioma
Adamantinous Craniopharyngioma 		Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs17107318
rs17107318 		1.000 0.040 5 147829667 intron variant A/G snv 8.2E-03 7.5E-03
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		Digestive System Diseases 0.100 0.967 30 2001 2017