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: 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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 1999 2020
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.070 1.000 7 2000 2018
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.730 1.000 4 1998 2016
dbSNP: rs1164821473
rs1164821473
F5
2 0.925 0.080 1 169546573 missense variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs118203905
rs118203905
F5
2 1.000 0.040 1 169555300 missense variant T/C snv 6.9E-04 2.0E-04 0.010 1.000 1 2003 2003
dbSNP: rs1203757587
rs1203757587
MTHFR
1 1.000 0.040 1 11792279 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
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: rs1255283120
rs1255283120
MTHFR
7 0.807 0.160 1 11792345 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
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: 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: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2008 2008
dbSNP: rs2227589
rs2227589
SERPINC1
3 0.925 0.120 1 173917078 intron variant C/T snv 9.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs3138521
rs3138521
SERPINC1
1 1.000 0.040 1 173917605 upstream gene variant CTAACCAAGGAAACAAACTTGGTTCATACCCA/TACCTGACTGAGGAGAAACTTGTCTGCAGGATTTTTTGTTTCTCGTTAACTAAATCAGAAGATAGAAATAGTTAATGTCCAAAAACTTCTAGCCCTCTACCTGTAATT delins 0.010 1.000 1 2017 2017
dbSNP: rs556266847
rs556266847
F5
1 1.000 0.040 1 169550655 missense variant A/G snv 0.010 1.000 1 1998 1998
dbSNP: rs121918146
rs121918146
PROC ; LOC105373608
5 0.827 0.200 2 127428485 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 2018 2018
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: 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: 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: 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: 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: rs5940
rs5940
TFPI ; LOC105373786
3 0.882 0.080 2 187466977 missense variant C/T snv 1.3E-02 1.4E-02 0.010 < 0.001 1 2001 2001