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: rs1057519758
rs1057519758
ABL1
1 1.000 0.080 9 130872153 missense variant T/G snv 0.700 1.000 5 2004 2014
dbSNP: rs1057519771
rs1057519771
ABL1
2 1.000 0.080 9 130872201 missense variant G/C snv 0.730 1.000 4 2009 2019
dbSNP: rs387906517
rs387906517
ABL1
6 0.827 0.120 9 130862919 missense variant G/A snv 0.730 1.000 4 2006 2013
dbSNP: rs1057519773
rs1057519773
ABL1
4 0.851 0.160 9 130872901 missense variant T/A;C;G snv 0.710 1.000 2 2008 2011
dbSNP: rs1057519772
rs1057519772
ABL1
1 1.000 0.080 9 130872895 missense variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519774
rs1057519774
ABL1
1 1.000 0.080 9 130872902 missense variant T/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519775
rs1057519775
ABL1
1 1.000 0.080 9 130873028 missense variant T/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1064156
rs1064156
ABL1
1 1.000 0.080 9 130878519 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1314838108
rs1314838108
ABL1
2 0.925 0.160 9 130854977 missense variant G/A snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs34549764
rs34549764
ABL1
1 1.000 0.080 9 130862953 missense variant A/G snv 2.6E-03 2.5E-03 0.010 < 0.001 1 2005 2005
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: rs886063722
rs886063722
AGPAT2
1 1.000 0.080 9 136677118 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs141157255
rs141157255
APAF1
3 0.882 0.120 12 98659331 missense variant G/A snv 4.0E-05 2.8E-05 0.010 1.000 1 2007 2007
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: rs532354124
rs532354124
ASPM
1 1.000 0.080 1 197103274 missense variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs3092856
rs3092856
ATM
3 0.882 0.120 11 108289005 missense variant C/T snv 1.2E-02 2.2E-02 0.010 1.000 1 2016 2016
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: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs755796482
rs755796482
ATXN2 ; SH2B3
1 1.000 0.080 12 111447512 missense variant G/A snv 4.1E-06 8.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs918140013
rs918140013
ATXN2 ; SH2B3
2 0.925 0.080 12 111447663 missense variant G/A snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1801018
rs1801018
BCL2
6 0.851 0.240 18 63318646 synonymous variant T/C snv 0.37 0.32 0.010 1.000 1 2009 2009
dbSNP: rs766124888
rs766124888
BCR
1 1.000 0.080 22 23253817 missense variant C/A;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs369488601
rs369488601
BCR ; RSPH14
1 1.000 0.080 22 23181175 missense variant G/A;C snv 1.9E-05; 9.7E-05 0.010 1.000 1 2016 2016
dbSNP: rs768288452
rs768288452
BCR ; RSPH14
1 1.000 0.080 22 23181822 missense variant A/G snv 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs775014154
rs775014154
BCR ; RSPH14
1 1.000 0.080 22 23181637 missense variant C/T snv 5.8E-05 7.0E-05 0.010 1.000 1 2019 2019