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: rs138924661
rs138924661
TRIM25 ; DGKE
9 0.807 0.120 17 56848773 stop gained G/A snv 9.1E-05 1.5E-04 0.700 0
dbSNP: rs869320714
rs869320714
SLFN14
3 1.000 17 35557404 missense variant A/T snv 0.700 0
dbSNP: rs869320715
rs869320715
SLFN14
3 1.000 17 35557406 missense variant T/A snv 0.700 0
dbSNP: rs190521996
rs190521996
PMM2
12 0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 0.700 0
dbSNP: rs757788894
rs757788894
CLCN7
6 0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs80338701
rs80338701
PMM2
14 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
20 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 0.700 0
dbSNP: rs104894419
rs104894419
LIG4
8 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 1.000 2 2001 2014
dbSNP: rs2274407
rs2274407
ABCC4
4 0.882 0.120 13 95206781 missense variant C/A;G;T snv 9.7E-02 0.10 0.010 1.000 1 2009 2009
dbSNP: rs759838407
rs759838407
LIG4
3 0.925 0.160 13 108209756 frameshift variant AG/-;AGAG delins 0.700 1.000 1 2014 2014
dbSNP: rs766715154
rs766715154
ABCC4
1 13 95206759 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs9574547
rs9574547 		1 13 80057282 intron variant C/A snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs61749397
rs61749397
VWF
9 0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06 0.030 1.000 3 2010 2017
dbSNP: rs724159947
rs724159947
ETV6
6 0.851 0.120 12 11869601 missense variant C/T snv 0.710 1.000 2 2015 2015
dbSNP: rs17824620
rs17824620
RPH3A
2 12 112663189 intron variant C/A snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs2306283
rs2306283
SLCO1B1
16 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 0.010 1.000 1 2016 2016
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2016 2016
dbSNP: rs4149117
rs4149117
SLCO1B3 ; SLCO1B3-SLCO1B7
15 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 0.010 1.000 1 2015 2015
dbSNP: rs61749384
rs61749384
VWF
5 0.882 0.080 12 6019502 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs724159945
rs724159945
ETV6
3 1.000 12 11885968 missense variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs724159946
rs724159946
ETV6
3 1.000 12 11884541 missense variant G/A snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs779449782
rs779449782
VWF
1 12 6057915 missense variant G/A;C snv 1.6E-05 1.4E-05 0.010 1.000 1 1992 1992
dbSNP: rs786205155
rs786205155
ETV6
4 0.882 0.120 12 11884481 missense variant T/C snv 0.710 1.000 1 2015 2015
dbSNP: rs786205154
rs786205154
ETV6
3 1.000 0.120 12 11885921 coding sequence variant GAACA/- delins 0.700 0
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 1.000 3 2018 2019