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: rs1022088103
rs1022088103
MMP2
1 16 55485759 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1033313160
rs1033313160
MAPKAP1
1 9 125506375 missense variant G/T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs1223118092
rs1223118092
RHOQ ; LOC100506142
1 2 46576601 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1231584616
rs1231584616
MMP2
1 16 55485367 missense variant G/A snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs138281457
rs138281457
GRAP2
1 22 39955861 missense variant A/G snv 4.0E-06 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs1383618437
rs1383618437
ATAT1
1 6 30627473 missense variant C/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1442033697
rs1442033697
SERPINE1
1 7 101135780 frameshift variant A/- del 0.010 1.000 1 2004 2004
dbSNP: rs1453208391
rs1453208391
HGF
1 7 81707297 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs367569800
rs367569800
PLXNA1
1 3 127014358 missense variant G/A;C snv 6.7E-05; 1.0E-04 0.010 1.000 1 2016 2016
dbSNP: rs367827951
rs367827951
PLAT
1 8 42182000 missense variant G/A;C snv 4.0E-06; 2.8E-05 0.010 1.000 1 2014 2014
dbSNP: rs371731991
rs371731991
RET
1 10 43109220 missense variant G/A;C snv 2.0E-05; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs3918252
rs3918252
MMP9
1 20 46010492 missense variant C/G snv 3.6E-05 2.4E-04 0.010 1.000 1 2015 2015
dbSNP: rs4328905
rs4328905
HPSE
1 4 83322396 intron variant A/G snv 0.18 0.18 0.010 1.000 1 2010 2010
dbSNP: rs6737848
rs6737848
SOCS5 ; LINC01118
1 2 46701027 intron variant C/G snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs757786591
rs757786591
WNT10A
1 2 218890134 missense variant G/A snv 4.4E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs757816355
rs757816355
KRAS
1 12 25225657 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs763116801
rs763116801
TP63
1 3 189869342 missense variant A/C;G snv 4.0E-06; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs765715998
rs765715998
HCK
1 20 32083944 missense variant G/A snv 2.4E-05 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs770795658
rs770795658
PGR ; PGR-AS1
1 11 101127788 missense variant C/T snv 6.1E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs771086543
rs771086543
CUEDC2 ; FBXL15
1 10 102422814 missense variant G/A snv 1.3E-04 1.0E-04 0.010 1.000 1 2006 2006
dbSNP: rs771799019
rs771799019
GRAP2
1 22 39969528 missense variant G/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs772903705
rs772903705
PSD
1 10 102411788 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs774390402
rs774390402
BCAR1
1 16 75235116 missense variant A/C snv 1.2E-05 0.010 < 0.001 1 2008 2008
dbSNP: rs777009146
rs777009146
CTNND1 ; TMX2-CTNND1
1 11 57805955 missense variant G/A snv 2.0E-05 2.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs1156560901
rs1156560901
CDK15
2 2 201880120 missense variant A/G snv 1.4E-05 0.010 1.000 1 2014 2014