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: rs137853142
rs137853142
1.000 0.120 4 25664267 missense variant G/A;C snv 1.6E-05; 4.0E-06
CUI: C0155912
Disease: Pulmonary Alveolar Microlithiasis
Pulmonary Alveolar Microlithiasis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases 0.800 1.000 1 2006 2006
dbSNP: rs137853141
rs137853141
1.000 0.120 4 25662818 stop gained C/T snv
CUI: C0155912
Disease: Pulmonary Alveolar Microlithiasis
Pulmonary Alveolar Microlithiasis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs796065044
rs796065044
1.000 0.120 4 25662804 frameshift variant ACCTACCCACTCT/- del
CUI: C0155912
Disease: Pulmonary Alveolar Microlithiasis
Pulmonary Alveolar Microlithiasis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases 0.700 0