Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2012 2012
dbSNP: rs313152
rs313152
PTAFR
4 0.851 0.120 1 28149490 3 prime UTR variant T/C snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs5938
rs5938
PTAFR
5 0.827 0.200 1 28150351 missense variant G/T snv 8.0E-03 2.5E-03 0.010 1.000 1 2017 2017