Disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET ×
Source: ALL
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: rs587777609
rs587777609 		0.851 0.040 5 139480849 missense variant T/C snv
CUI: C4014722
Disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		0.810 1.000 4 2014 2019
dbSNP: rs587777610
rs587777610 		1.000 5 139480847 missense variant C/T snv 4.0E-06 2.8E-05
CUI: C4014722
Disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		0.800 1.000 6 2014 2019
dbSNP: rs587777611
rs587777611 		1.000 5 139480871 splice acceptor variant C/G snv
CUI: C4014722
Disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		0.800 1.000 3 2014 2019
dbSNP: rs1561482476
rs1561482476 		1.000 5 139477433 missense variant C/T snv
CUI: C4014722
Disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 		0.700 0