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: rs111340708
rs111340708
ATXN2 ; SH2B3
2 0.925 0.080 12 111447548 intron variant TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG delins 0.52 0.010 1.000 1 2016 2016
dbSNP: rs12343867
rs12343867
JAK2 ; INSL6
9 0.790 0.200 9 5074189 intron variant T/C snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs1257378
rs1257378
PIWIL4 ; LOC105369438
1 1.000 0.080 11 94621792 intron variant A/T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs636832
rs636832
AGO1
8 0.790 0.400 1 35897874 intron variant G/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs6503691
rs6503691
STAT5B
5 0.827 0.200 17 42242072 intron variant C/T snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs6931104
rs6931104
ARMT1
1 1.000 0.080 6 151465042 intron variant G/A snv 0.54 0.010 1.000 1 2019 2019
dbSNP: rs4795519
rs4795519 		1 1.000 0.080 17 27214252 intergenic variant A/C snv 0.43 0.800 1.000 1 2011 2011
dbSNP: rs137852975
rs137852975
BSCL2 ; HNRNPUL2-BSCL2
5 0.851 0.240 11 62692671 stop gained C/A snv 2.0E-05 1.4E-05 0.020 1.000 2 2007 2016
dbSNP: rs1208076129
rs1208076129
POU5F1 ; TCF19
2 0.925 0.120 6 31164861 stop gained G/A snv 4.1E-06 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs137852974
rs137852974
BSCL2 ; LRRN4CL ; HNRNPUL2-BSCL2
2 0.925 0.200 11 62691132 stop gained G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121913459
rs121913459
ABL1
25 0.672 0.160 9 130872896 missense variant C/T snv 0.800 0.943 105 2001 2020
dbSNP: rs121913448
rs121913448
ABL1
5 0.827 0.120 9 130862976 missense variant G/A snv 0.730 1.000 18 2001 2014
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.100 0.889 18 2008 2019
dbSNP: rs121913461
rs121913461
ABL1
5 0.851 0.120 9 130862970 missense variant T/C snv 0.700 1.000 16 2002 2014
dbSNP: rs121913457
rs121913457
ABL1
1 1.000 0.080 9 130873004 missense variant T/C snv 0.710 1.000 15 2002 2014
dbSNP: rs121913452
rs121913452
ABL1
4 0.851 0.080 9 130873027 missense variant T/A;C;G snv 0.740 1.000 14 2003 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.917 12 2003 2019
dbSNP: rs121913451
rs121913451
ABL1
4 0.851 0.160 9 130872903 missense variant C/A;G snv 0.710 1.000 12 2002 2014
dbSNP: rs748843032
rs748843032
MTTP
8 0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06 0.100 0.917 12 2006 2018
dbSNP: rs121913449
rs121913449
ABL1
1 1.000 0.080 9 130862977 missense variant A/T snv 0.700 1.000 10 2001 2014
dbSNP: rs121913456
rs121913456
ABL1
1 1.000 0.080 9 130862943 missense variant A/G snv 0.710 1.000 10 2002 2014
dbSNP: rs121913450
rs121913450
ABL1
1 1.000 0.080 9 130873016 missense variant A/G snv 0.700 1.000 8 2002 2014
dbSNP: rs121913453
rs121913453
ABL1
1 1.000 0.080 9 130862962 missense variant G/A snv 0.700 1.000 8 2002 2014
dbSNP: rs121913454
rs121913454
ABL1
2 0.925 0.080 9 130874969 missense variant A/G snv 0.710 1.000 8 2002 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.070 0.857 7 2012 2019