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: rs13306190
rs13306190
APOB
7 0.807 0.320 2 21032408 missense variant G/A;C;T snv 1.7E-04; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.952 21 1997 2019
dbSNP: rs1799889
rs1799889
SERPINE1
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.020 1.000 2 2018 2019
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2019 2019
dbSNP: rs121909567
rs121909567
SERPINC1
2 0.925 0.120 1 173914570 missense variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs121918156
rs121918156
PROC ; LOC105373608
3 0.882 0.120 2 127427219 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs12634349
rs12634349
PROS1
1 1.000 0.040 3 93882955 intron variant A/G snv 0.34 0.010 1.000 1 2019 2019
dbSNP: rs13062355
rs13062355
PROS1
1 1.000 0.040 3 93969667 intron variant G/A snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs1321566264
rs1321566264
PROC ; LOC105373608
2 0.925 0.120 2 127428522 missense variant C/T snv 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs1487411568
rs1487411568
SERPINC1 ; ZBTB37
2 0.925 0.120 1 173903969 missense variant G/A;T snv 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1553424043
rs1553424043
PROC ; MIR4783
3 0.925 0.120 2 127423123 missense variant T/C snv 0.700 1.000 1 2019 2019
dbSNP: rs1799808
rs1799808
PROC
3 1.000 0.040 2 127418286 upstream gene variant C/T snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs1799810
rs1799810
PROC
5 1.000 0.040 2 127418464 5 prime UTR variant A/T snv 0.38 0.44 0.010 1.000 1 2019 2019
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2019 2019
dbSNP: rs369504169
rs369504169
PROC
3 0.925 0.120 2 127421337 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs6441600
rs6441600
PROS1
1 1.000 0.040 3 93956895 intron variant C/G snv 0.97 0.010 1.000 1 2019 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 1999 2020