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: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.100 0.944 18 2012 2019
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
11 0.827 0.280 2 136114915 stop gained G/C snv 0.010 1.000 1 2014 2014
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs116446171
rs116446171 		4 0.851 0.160 6 484453 downstream gene variant C/G snv 2.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs117410836
rs117410836 		2 0.925 0.160 14 95585637 downstream gene variant T/C snv 2.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2016 2016
dbSNP: rs1392080411
rs1392080411
KLF2
5 0.827 0.160 19 16325934 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1472503583
rs1472503583
PWWP3A
4 0.925 0.160 19 1360712 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs757085537
rs757085537
PRDM1 ; ATG5
5 0.851 0.160 6 106105356 missense variant C/T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs773862672
rs773862672
MTOR
6 0.882 0.280 1 11247922 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2014 2014