Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.100 0.952 21 1997 2019
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.090 0.889 9 1999 2020
dbSNP: rs751377893
rs751377893
F5
0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.070 1.000 7 2000 2018
dbSNP: rs6025
rs6025
F5
0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.730 1.000 3 1998 2016
dbSNP: rs1164821473
rs1164821473
F5
0.925 0.080 1 169546573 missense variant T/A;C snv
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2017 2017
dbSNP: rs118203905
rs118203905
F5
1.000 0.040 1 169555300 missense variant T/C snv 6.9E-04 2.0E-04
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2003 2003
dbSNP: rs1203757587
rs1203757587
MTHFR
1.000 0.040 1 11792279 missense variant T/C snv 4.0E-06
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2017 2017
dbSNP: rs1255283120
rs1255283120
MTHFR
0.807 0.160 1 11792345 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2015 2015
dbSNP: rs1801131
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2019 2019
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2019 2019
dbSNP: rs1805087
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2008 2008
dbSNP: rs2227589
rs2227589
SERPINC1
0.925 0.120 1 173917078 intron variant C/T snv 9.6E-02
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2008 2008
dbSNP: rs3138521
rs3138521
SERPINC1
1.000 0.040 1 173917605 upstream gene variant CTAACCAAGGAAACAAACTTGGTTCATACCCA/TACCTGACTGAGGAGAAACTTGTCTGCAGGATTTTTTGTTTCTCGTTAACTAAATCAGAAGATAGAAATAGTTAATGTCCAAAAACTTCTAGCCCTCTACCTGTAATT delins
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2017 2017
dbSNP: rs556266847
rs556266847
F5
1.000 0.040 1 169550655 missense variant A/G snv
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 1998 1998
dbSNP: rs121918146
rs121918146
PROC ; LOC105373608
0.827 0.200 2 127428485 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2018 2018
dbSNP: rs13306190
rs13306190
APOB
0.807 0.320 2 21032408 missense variant G/A;C;T snv 1.7E-04; 8.0E-06
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2018 2018
dbSNP: rs1799808
rs1799808
PROC
1.000 0.040 2 127418286 upstream gene variant C/T snv 0.33
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2019 2019
dbSNP: rs1799810
rs1799810
PROC
1.000 0.040 2 127418464 5 prime UTR variant A/T snv 0.38 0.44
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2019 2019
dbSNP: rs5940
rs5940
TFPI ; LOC105373786
0.882 0.080 2 187466977 missense variant C/T snv 1.3E-02 1.4E-02
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 < 0.001 1 2001 2001
dbSNP: rs7586970
rs7586970
TFPI ; LOC105373786
0.925 0.040 2 187478770 missense variant T/C;G snv 0.29
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2009 2009
dbSNP: rs773761677
rs773761677
PROC ; LOC105373608
1.000 0.040 2 127428444 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2014 2014
dbSNP: rs121918474
rs121918474
PROS1
0.763 0.320 3 93905799 missense variant T/C snv 2.8E-05 1.4E-05
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.030 1.000 3 2006 2010
dbSNP: rs12634349
rs12634349
PROS1
1.000 0.040 3 93882955 intron variant A/G snv 0.34
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2019 2019
dbSNP: rs13062355
rs13062355
PROS1
1.000 0.040 3 93969667 intron variant G/A snv 0.46
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2019 2019
dbSNP: rs1396452003
rs1396452003
PROS1
0.925 0.120 3 93879173 missense variant T/C snv 4.0E-06
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2007 2007