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: rs121908191
rs121908191
ITK
1 1.000 5 157241663 missense variant C/T snv 0.800 1.000 1 2009 2009
dbSNP: rs397514260
rs397514260
ITK
1 1.000 5 157248980 stop gained C/G snv 0.700 0
dbSNP: rs397514261
rs397514261
ITK
1 1.000 5 157181063 missense variant G/A snv 1.2E-05 7.0E-06 0.700 0