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 0.010 < 0.001 1 2012 2012
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