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: rs1153287
rs1153287
BACH1
1 1.000 0.120 21 29313290 intron variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1153294
rs1153294
BACH1
1 1.000 0.120 21 29328775 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs117214
rs117214
BACH1
1 1.000 0.120 21 29348513 intron variant C/T snv 0.45 0.700 1.000 1 2011 2011
dbSNP: rs1447826
rs1447826 		1 1.000 0.120 3 74669607 intergenic variant T/A;C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs1975920
rs1975920
PPFIBP1
1 1.000 0.120 12 27583053 intron variant G/T snv 0.40 0.700 1.000 1 2011 2011
dbSNP: rs2035565
rs2035565
LINC01829
1 1.000 0.120 2 67392524 intron variant C/T snv 0.74 0.700 1.000 1 2011 2011
dbSNP: rs2172905
rs2172905 		1 1.000 0.120 6 170019278 regulatory region variant C/T snv 0.30 0.700 1.000 1 2011 2011
dbSNP: rs2832290
rs2832290
BACH1
1 1.000 0.120 21 29356542 intron variant A/G snv 0.48 0.700 1.000 1 2011 2011
dbSNP: rs2903018
rs2903018 		1 1.000 0.120 19 29164379 intergenic variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs7015626
rs7015626
LINC00964
1 1.000 0.120 8 124864572 intron variant G/A snv 0.39 0.700 1.000 1 2011 2011
dbSNP: rs7106914
rs7106914
SBF2
1 1.000 0.120 11 9956424 intron variant T/C snv 0.38 0.700 1.000 1 2014 2014
dbSNP: rs1555461176
rs1555461176
PALB2
1 1.000 0.120 16 23634893 stop gained -/T delins 0.700 0
dbSNP: rs1034925236
rs1034925236
NR5A2
2 0.925 0.120 1 200048258 missense variant G/C snv 0.010 1.000 1 2011 2011
dbSNP: rs10500715
rs10500715
SBF2
2 0.925 0.120 11 9951515 intron variant T/G snv 0.39 0.700 1.000 1 2014 2014
dbSNP: rs10887710
rs10887710 		2 0.925 0.120 10 80270029 downstream gene variant T/C snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs11085754
rs11085754
SMARCA4
2 0.925 0.120 19 11017920 intron variant A/G snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs1153280
rs1153280
BACH1
2 1.000 0.120 21 29305751 intron variant G/A snv 0.52 0.700 1.000 1 2011 2011
dbSNP: rs11644043
rs11644043
BRD7
2 0.925 0.120 16 50327466 intron variant T/C snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs1235228469
rs1235228469
PIK3CB
2 0.925 0.120 3 138684714 missense variant C/A snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs12362504
rs12362504
SBF2 ; LOC101928008
2 0.925 0.120 11 9907995 intron variant T/C snv 0.37 0.700 1.000 1 2014 2014
dbSNP: rs12456874
rs12456874
LDLRAD4
2 0.925 0.120 18 13366863 intron variant A/G snv 0.20 0.700 1.000 1 2014 2014
dbSNP: rs1276300653
rs1276300653
OGG1 ; CAMK1
2 0.925 0.120 3 9757072 missense variant T/C snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12939944
rs12939944
MAP2K4
2 0.925 0.120 17 12056502 intron variant C/T snv 0.45 0.010 1.000 1 2013 2013
dbSNP: rs1318
rs1318
PITPNC1 ; LOC101928045
2 0.925 0.120 17 67695266 3 prime UTR variant A/G snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs13303010
rs13303010
NOC2L ; KLHL17
2 0.925 0.120 1 959193 intron variant G/A snv 0.82 0.69 0.010 < 0.001 1 2018 2018