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: rs183643295
rs183643295
F12 ; GRK6 ; SLC34A1
2 1.000 0.080 5 177404082 missense variant C/G snv 3.1E-03 1.1E-03 0.700 1.000 1 2011 2011
dbSNP: rs1157280571
rs1157280571
F12 ; SLC34A1 ; PFN3
1 1.000 0.080 5 177402372 missense variant A/T snv 7.0E-06 0.700 0
dbSNP: rs118204454
rs118204454
F12 ; GRK6 ; SLC34A1
2 1.000 0.080 5 177403994 missense variant C/G;T snv 4.4E-06 0.700 0
dbSNP: rs118204455
rs118204455
F12 ; GRK6 ; SLC34A1
1 1.000 0.080 5 177406019 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs118204456
rs118204456
F12 ; GRK6 ; SLC34A1
7 0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06 0.700 0
dbSNP: rs199988476
rs199988476
F12 ; SLC34A1 ; PFN3
1 1.000 0.080 5 177402460 splice acceptor variant C/A;G;T snv 3.0E-05; 4.0E-04 0.700 0
dbSNP: rs766505234
rs766505234
F12 ; SLC34A1 ; PFN3
1 1.000 0.080 5 177402375 missense variant C/G snv 8.0E-06 0.700 0
dbSNP: rs865853663
rs865853663
F12 ; GRK6 ; SLC34A1
1 1.000 0.080 5 177403878 missense variant C/T snv 0.700 0
dbSNP: rs932430490
rs932430490
F12 ; GRK6 ; SLC34A1
1 1.000 0.080 5 177403859 missense variant C/T snv 0.700 0
dbSNP: rs1411224107
rs1411224107
SERPINE1
4 0.882 0.160 7 101128439 missense variant C/T snv 7.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs1434731445
rs1434731445
F12 ; SLC34A1 ; PFN3
1 1.000 0.080 5 177402593 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs201946800
rs201946800
F12 ; SLC34A1
1 1.000 0.080 5 177402669 missense variant C/T snv 3.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs767475486
rs767475486
F12 ; SLC34A1 ; PFN3
1 1.000 0.080 5 177402459 missense variant C/G;T snv 4.3E-06; 5.6E-05 0.010 1.000 1 2018 2018