rs797044451, RASA1

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
22 0.925 0.120 5 87268922 frameshift variant CT/- delins 0.700 0
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1
CUI: C4747394
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1
7 0.925 0.120 5 87268922 frameshift variant CT/- delins 0.700 0