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: rs118204456
rs118204456
F12 ; GRK6 ; SLC34A1
7 0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06 0.750 1.000 10 2006 2020
dbSNP: rs889957249
rs889957249
PLG
2 1.000 0.160 6 160718730 missense variant A/G snv 4.0E-06 7.0E-06 0.720 1.000 2 2019 2019
dbSNP: rs28940870
rs28940870
SERPING1
3 0.882 0.160 11 57614474 missense variant C/A;T snv 0.030 1.000 3 1990 2015
dbSNP: rs121907948
rs121907948
SERPING1
3 0.882 0.160 11 57614475 missense variant G/A;C;T snv 0.020 1.000 2 1992 2002
dbSNP: rs764987358
rs764987358
ANGPT1
2 1.000 0.160 8 107347040 missense variant C/A snv 8.0E-06 1.4E-05 0.020 1.000 2 2018 2019
dbSNP: rs753879928
rs753879928
PLG
1 1.000 0.160 6 160718432 missense variant G/C snv 1.6E-05 0.010 1.000 1 2020 2020
dbSNP: rs776688962
rs776688962
F12 ; GRK6 ; SLC34A1
1 1.000 0.160 5 177404500 missense variant G/A;T snv 3.5E-05 7.0E-06 0.010 1.000 1 2020 2020