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: rs28493229
rs28493229
COQ8B ; ITPKC
3 0.925 0.200 19 40718299 intron variant G/A;C snv 6.0E-06; 0.12 0.890 0.900 10 2010 2018
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.880 1.000 9 2011 2019
dbSNP: rs2736340
rs2736340 		22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.820 1.000 4 2012 2016
dbSNP: rs2254546
rs2254546 		6 0.807 0.400 8 11486171 upstream gene variant A/G snv 0.83 0.820 1.000 3 2012 2014
dbSNP: rs2857151
rs2857151 		2 0.925 0.160 6 32795737 intergenic variant A/C;G snv 0.810 1.000 2 2012 2013
dbSNP: rs4813003
rs4813003 		3 0.882 0.160 20 46134645 downstream gene variant C/A;T snv 0.19 0.810 1.000 2 2012 2015
dbSNP: rs527409
rs527409
DAB1
1 1.000 0.120 1 58292243 intron variant T/C snv 0.95 0.810 1.000 1 2011 2011
dbSNP: rs1569723
rs1569723 		6 0.851 0.280 20 46113425 upstream gene variant C/A snv 0.80 0.800 1.000 1 2012 2012
dbSNP: rs17136627
rs17136627
KCNN2 ; LOC101927078
2 0.925 0.120 5 114463289 intron variant C/T snv 7.5E-02 0.800 1.000 1 2013 2013
dbSNP: rs17531088
rs17531088
NAALADL2
1 1.000 0.120 3 175175985 intron variant C/T snv 0.34 0.800 1.000 1 2009 2009
dbSNP: rs17667932
rs17667932
MED30
2 1.000 0.120 8 117537137 intron variant T/C snv 7.5E-02 0.800 1.000 1 2012 2012
dbSNP: rs2130392
rs2130392
CENPU
1 1.000 0.120 4 184718015 intron variant G/A;C;T snv 0.800 1.000 1 2012 2012
dbSNP: rs2233152
rs2233152
MIA ; MIA-RAB4B
1 1.000 0.120 19 40775111 intron variant G/A;T snv 0.800 1.000 1 2012 2012
dbSNP: rs7656244
rs7656244
TECRL
1 1.000 0.120 4 64304697 intron variant C/A snv 0.21 0.800 1.000 1 2012 2012
dbSNP: rs6993775
rs6993775
BLK
1 1.000 0.120 8 11512480 intron variant G/T snv 0.77 0.720 1.000 3 2012 2019
dbSNP: rs12068753
rs12068753 		2 1.000 0.120 1 159722747 intergenic variant T/A snv 0.15 0.710 1.000 1 2015 2015
dbSNP: rs16921209
rs16921209
NEBL ; LOC102725112
3 0.882 0.160 10 20879174 intron variant C/G snv 4.6E-02 0.710 1.000 1 2016 2016
dbSNP: rs17076896
rs17076896
TUBA3C ; LOC101928697
3 0.882 0.160 13 19181923 upstream gene variant T/C snv 8.3E-02 0.710 1.000 1 2016 2016
dbSNP: rs899162
rs899162 		3 0.882 0.160 5 135459219 downstream gene variant G/A snv 1.0E-01 0.710 1.000 1 2019 2019
dbSNP: rs10082659
rs10082659
LDLRAD3
1 1.000 0.120 11 36122428 intron variant G/T snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs10100215
rs10100215
BLK
1 1.000 0.120 8 11504763 intron variant G/T snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs10127456
rs10127456
FHAD1 ; FHAD1-AS1
2 0.925 0.120 1 15327376 non coding transcript exon variant G/A snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs11250141
rs11250141
BLK
1 1.000 0.120 8 11514632 intron variant G/A snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs11734
rs11734
ZSCAN25
1 1.000 0.120 7 99632145 3 prime UTR variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs11793049
rs11793049
ZNF618
2 0.925 0.120 9 114011589 intron variant A/G;T snv 0.700 1.000 1 2016 2016