rs863223408, ACVRL1

N. diseases: 4
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.
OSLER-RENDU-WEBER SYNDROME 2
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
91 0.882 0.160 12 51920832 missense variant G/A snv 0.700 1.000 9 2005 2013
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
32 0.882 0.160 12 51920832 missense variant G/A snv 0.700 1.000 6 2005 2015
Epistaxis
CUI: C0014591
Disease: Epistaxis
4 0.882 0.160 12 51920832 missense variant G/A snv 0.700 0
Pulmonary arterial hypertension
CUI: C2973725
Disease: Pulmonary arterial hypertension
70 0.882 0.160 12 51920832 missense variant G/A snv 0.700 0