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: rs10510050
rs10510050 		1 10 118867050 intron variant A/G snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs11598702
rs11598702
NT5C2
1 10 103138228 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs11789898
rs11789898
BRD3
3 9 134060541 intron variant G/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1297235855
rs1297235855
GP9
1 3 129062206 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1523130
rs1523130
NR1I2
1 3 119780660 5 prime UTR variant T/C snv 0.47 0.010 1.000 1 2015 2015
dbSNP: rs1569008655
rs1569008655
RUNX1
1 21 34799310 stop gained G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs17824620
rs17824620
RPH3A
2 12 112663189 intron variant C/A snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs2290280
rs2290280
CCNH ; LOC105379066
1 5 87412904 5 prime UTR variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs28362731
rs28362731
AQP1
2 7 30922175 missense variant G/A snv 3.1E-02 2.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs3786136
rs3786136
RPA1
1 17 1869979 intron variant G/A snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs4694362
rs4694362
DCK
1 4 71028147 intron variant C/T snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs5030437
rs5030437
TRAF6
1 11 36503205 intron variant A/G snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs5030470
rs5030470
TRAF6
1 11 36493896 intron variant A/G snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs587778516
rs587778516
MPL
1 1 43338592 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs760797899
rs760797899
THPO
1 3 184375917 missense variant G/A snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs766715154
rs766715154
ABCC4
1 13 95206759 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2009 2009
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: rs780517804
rs780517804
GALE
1 1 23798701 missense variant G/A snv 2.0E-05 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs794727505
rs794727505
CLTA ; GNE
1 9 36246181 missense variant A/G snv 8.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs9574547
rs9574547 		1 13 80057282 intron variant C/A snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs1553196096
rs1553196096
CDC42
5 1 22086463 missense variant G/A snv 0.700 0
dbSNP: rs1569061762
rs1569061762
RUNX1
1 21 34859476 missense variant C/T snv 0.700 0
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2009 2009
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
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 2014 2014