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: rs1142345
rs1142345
TPMT
9 0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 0.020 1.000 2 2004 2016
dbSNP: rs1800462
rs1800462
TPMT
5 0.851 0.240 6 18143724 missense variant C/G snv 1.7E-03 2.0E-03 0.020 1.000 2 2004 2016
dbSNP: rs1349381823
rs1349381823
ITPA
1 1.000 0.160 20 3214033 missense variant C/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1800460
rs1800460
TPMT
7 0.807 0.320 6 18138997 missense variant C/T snv 2.8E-02 2.6E-02 0.010 1.000 1 2004 2004