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: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs4866
rs4866
NUDT1
5 0.827 0.240 7 2249951 missense variant G/A snv 2.2E-02 1.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs1778335
rs1778335
PIP4K2A
1 1.000 0.080 10 22643219 intron variant T/C snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs7519667
rs7519667
WDR64
1 1.000 0.080 1 241722005 intron variant C/T snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs750078923
rs750078923
MYO18B
1 1.000 0.080 22 25769052 missense variant G/A;C snv 1.6E-05 0.700 0
dbSNP: rs1429133479
rs1429133479
MYO18B
1 1.000 0.080 22 25847461 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs12200782
rs12200782
BTN3A1
1 1.000 0.080 6 26402808 intron variant C/G snv 7.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs141670911
rs141670911 		1 1.000 0.080 6 26581030 intergenic variant A/T snv 7.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs4324798
rs4324798 		8 0.790 0.240 6 28808340 intergenic variant G/A snv 7.2E-02 0.020 1.000 2 2010 2011
dbSNP: rs36600
rs36600
MTMR3
5 0.827 0.080 22 29941597 intron variant T/C snv 0.78 0.010 1.000 1 2014 2014
dbSNP: rs1412125
rs1412125
HMGB1
17 0.724 0.360 13 30467458 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs114033761
rs114033761 		1 1.000 0.080 6 31093784 regulatory region variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs116427960
rs116427960
HLA-B
3 0.925 0.120 6 31351449 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.710 1.000 2 2017 2018
dbSNP: rs141877527
rs141877527 		1 1.000 0.080 10 33497992 intergenic variant A/G snv 7.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs3787728
rs3787728
CBR1 ; SETD4 ; LOC100133286
5 0.851 0.080 21 36071595 intron variant T/C snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs876658657
rs876658657
MLH1
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs4760
rs4760
PLAUR
8 1.000 0.080 19 43648948 missense variant A/G snv 0.12 0.11 0.010 1.000 1 2009 2009
dbSNP: rs1023835002
rs1023835002
B2M ; PATL2
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
10 0.763 0.280 15 44711548 start lost T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877
B2M ; PATL2
10 0.763 0.280 15 44711549 start lost G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2019 2019
dbSNP: rs1535045
rs1535045
CD40
12 0.742 0.360 20 46119460 intron variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs587776783
rs587776783
RB1 ; LOC112268118
5 0.851 0.200 13 48373493 splice donor variant G/A snv 0.700 0