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: rs1127354
rs1127354
ITPA
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.700 0
dbSNP: rs1227149616
rs1227149616
ITPA
1 1.000 0.080 20 3218525 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs1381781375
rs1381781375
ITPA
1 1.000 0.080 20 3215286 frameshift variant G/- delins 0.700 0
dbSNP: rs1568509937
rs1568509937
ITPA
1 1.000 0.080 20 3213171 frameshift variant -/G delins 0.700 0