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: rs2738048
rs2738048 		1 1.000 0.120 8 6965263 downstream gene variant A/G snv 0.28 0.810 1.000 4 2011 2015
dbSNP: rs10488764
rs10488764
FDX1
1 1.000 0.120 11 110460907 intron variant G/A snv 0.18 0.020 1.000 2 2015 2015
dbSNP: rs11264794
rs11264794
FCRL3
2 1.000 0.120 1 157677999 3 prime UTR variant C/A snv 0.63 0.020 1.000 2 2019 2020
dbSNP: rs12716641
rs12716641 		1 1.000 0.120 8 7041476 upstream gene variant T/A;C snv 0.710 1.000 2 2014 2015
dbSNP: rs17019602
rs17019602
VAV3
1 1.000 0.120 1 107646236 intron variant A/G snv 0.19 0.710 1.000 2 2014 2017
dbSNP: rs2856717
rs2856717 		2 1.000 0.120 6 32702531 downstream gene variant A/G snv 0.64 0.710 1.000 2 2014 2017
dbSNP: rs7190997
rs7190997
ITGAX
2 1.000 0.120 16 31356857 intron variant T/C snv 0.52 0.710 1.000 2 2015 2019
dbSNP: rs1001703993
rs1001703993
PPOX
3 0.882 0.120 1 161170696 missense variant G/A;T snv 8.0E-06 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs10086568
rs10086568 		2 1.000 0.120 8 7042814 upstream gene variant G/A snv 0.34 0.700 1.000 1 2014 2014
dbSNP: rs1008898
rs1008898
C1GALT1
1 1.000 0.120 7 7233928 intron variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1047763
rs1047763
C1GALT1
2 0.925 0.120 7 7243938 3 prime UTR variant G/A snv 0.22 0.010 < 0.001 1 2015 2015
dbSNP: rs1055901
rs1055901
SERPINB7
1 1.000 0.120 18 63805221 3 prime UTR variant T/C snv 0.61 0.010 < 0.001 1 2016 2016
dbSNP: rs1055902
rs1055902
SERPINB7
1 1.000 0.120 18 63805309 3 prime UTR variant C/T snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs11084377
rs11084377
FCAR
1 1.000 0.120 19 54875434 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs11089788
rs11089788
MYH9
5 0.851 0.120 22 36355056 intron variant C/A snv 0.46 0.010 1.000 1 2011 2011
dbSNP: rs11150612
rs11150612 		1 1.000 0.120 16 31346439 intergenic variant G/A snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs11264793
rs11264793
FCRL3
1 1.000 0.120 1 157677736 3 prime UTR variant A/T snv 0.28 0.010 1.000 1 2020 2020
dbSNP: rs12022418
rs12022418
LOC105371664
1 1.000 0.120 1 192565977 intron variant C/A snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs13124532
rs13124532
PDE5A ; LOC645513
2 1.000 0.120 4 119495290 3 prime UTR variant C/T snv 0.10 0.010 1.000 1 2010 2010
dbSNP: rs1362970
rs1362970
NTN4 ; PGAM1P5
1 1.000 0.120 12 95658750 3 prime UTR variant C/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs1369270
rs1369270 		1 1.000 0.120 2 153179546 intron variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs140433921
rs140433921
SLC3A1
1 1.000 0.120 2 44286102 start lost T/C snv 2.0E-05 5.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs1794275
rs1794275 		2 1.000 0.120 6 32703471 downstream gene variant G/A snv 0.21 0.800 1.000 1 2011 2011
dbSNP: rs2033562
rs2033562 		1 1.000 0.120 8 102535511 intron variant G/A;C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2072392
rs2072392
BID
1 1.000 0.120 22 17743846 synonymous variant A/G snv 2.8E-02 4.1E-02 0.010 1.000 1 2014 2014