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: rs1210484348
rs1210484348
0.925 0.080 9 130884973 missense variant C/T snv 7.0E-06
CUI: C0265950
Disease: Venous malformation
Venous malformation
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2019 2019