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: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.040 0.750 4 2012 2019
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: rs118101777
rs118101777
IDH2
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 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: rs1385943435
rs1385943435
PAX5 ; LOC105376032
5 0.851 0.040 9 37002662 missense variant C/A;G;T snv 4.1E-06; 4.1E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs760031382
rs760031382
PAX5
5 0.851 0.040 9 36966613 missense variant C/T snv 8.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs922324159
rs922324159
MYCN ; MYCNOS
5 0.827 0.040 2 15941962 5 prime UTR variant G/A snv 2.4E-04 0.010 1.000 1 2012 2012