rs397514698, GNAQ

N. diseases: 52
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 (disorder)
CUI: C0340803
Disease: Capillary malformation (disorder)
13 0.667 0.400 9 77797577 missense variant C/T snv 0.730 1.000 3 2016 2019
Hemangioma of choroid
CUI: C0346390
Disease: Hemangioma of choroid
2 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2019 2019