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: rs772487425
rs772487425
0.925 0.120 15 39953948 frameshift variant AAGAA/- delins
CUI: C0340548
Disease: Pulmonary capillary hemangiomatosis
Pulmonary capillary hemangiomatosis
Neoplasms; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs886041403
rs886041403
1.000 0.080 15 39953948 frameshift variant AAGAA/- delins 1.4E-05
CUI: C0340548
Disease: Pulmonary capillary hemangiomatosis
Pulmonary capillary hemangiomatosis
Neoplasms; Cardiovascular Diseases 0.010 1.000 1 2019 2019