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: rs8176719
rs8176719
ABO
6 0.925 0.120 9 133257521 frameshift variant -/C ins 0.37 0.35 0.830 1.000 3 2012 2019
dbSNP: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 1.000 1 2009 2009
dbSNP: rs370396210
rs370396210 		1 4 154580036 downstream gene variant -/CA delins 4.2E-05 0.700 1.000 1 2011 2011
dbSNP: rs34234989
rs34234989
PROCR ; MMP24-AS1-EDEM2
5 0.882 0.120 20 35186731 intron variant A/- delins 0.40 0.700 1.000 1 2016 2016
dbSNP: rs16861990
rs16861990
NME7
2 1 169165889 intron variant A/C snv 5.5E-02 0.800 1.000 2 2011 2012
dbSNP: rs6687813
rs6687813 		2 1 169508336 downstream gene variant A/C snv 0.93 0.700 1.000 2 2011 2012
dbSNP: rs115865014
rs115865014
SATB1 ; TBC1D5
1 3 18424258 5 prime UTR variant A/C snv 1.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs1338029670
rs1338029670
KIDINS220
1 2 8800409 missense variant A/C snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs149130695
rs149130695
F11-AS1
1 4 186464194 intron variant A/C snv 5.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs149328960
rs149328960
LINC02476
1 7 119612310 intron variant A/C snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs4572916
rs4572916
F11-AS1
2 4 186302429 intron variant A/C snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs4805881
rs4805881
PEPD
3 19 33405526 intron variant A/C snv 0.69 0.700 1.000 1 2019 2019
dbSNP: rs638756
rs638756
ABO
2 9 133259081 intron variant A/C snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs641959
rs641959
ABO
4 9 133258308 intron variant A/C snv 0.29 0.700 1.000 1 2011 2011
dbSNP: rs9411377
rs9411377
ABO
2 9 133269992 intron variant A/C snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs7538157
rs7538157
BLZF1
1 1 169382306 intron variant A/C;G snv 5.9E-03; 6.2E-05 0.700 1.000 2 2011 2012
dbSNP: rs9880479
rs9880479 		1 3 39195984 upstream gene variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs4253421
rs4253421
F11
2 4 186283783 intron variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7297265
rs7297265
COPZ1
1 12 54325905 intron variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6427195
rs6427195
F5
2 1 169511938 downstream gene variant A/C;T snv 0.700 1.000 2 2011 2012
dbSNP: rs657152
rs657152
ABO
22 0.882 0.200 9 133263862 intron variant A/C;T snv 0.700 1.000 2 2011 2012
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.903 31 1997 2015
dbSNP: rs2288904
rs2288904
SLC44A2
8 0.807 0.240 19 10631494 missense variant A/G snv 0.80 0.83 0.720 0.750 4 2015 2020
dbSNP: rs147377392
rs147377392
THBD
11 0.763 0.120 20 23048144 missense variant A/G snv 1.0E-04 2.8E-04 0.030 0.667 3 2003 2013
dbSNP: rs687289
rs687289
ABO
15 1.000 0.120 9 133261703 intron variant A/G snv 0.800 1.000 3 2011 2019