BICD1, BICD cargo adaptor 1, 636

N. diseases: 8; N. variants: 5
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: rs10844154
rs10844154 		1.000 0.040 12 32227567 non coding transcript exon variant A/C;T snv 0.54
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		Respiratory Tract Diseases 0.700 1.000 1 2011 2011
dbSNP: rs10844154
rs10844154 		1.000 0.040 12 32227567 non coding transcript exon variant A/C;T snv 0.54
CUI: C0013990
Disease: Pathological accumulation of air in tissues
Pathological accumulation of air in tissues 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2011 2011
dbSNP: rs11051873
rs11051873 		12 32245979 intron variant G/A snv 5.0E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs708224
rs708224 		0.925 0.120 12 32283475 intron variant A/G snv 0.50
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs708224
rs708224 		0.925 0.120 12 32283475 intron variant A/G snv 0.50
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs161976
rs161976 		1.000 0.040 12 32215232 intron variant A/G snv 0.55
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2630578
rs2630578 		1.000 0.040 12 32152853 intron variant G/C snv 0.14
CUI: C0004277
Disease: Tooth Attrition
Tooth Attrition 		Stomatognathic Diseases 0.010 1.000 1 2008 2008