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: rs2292626
rs2292626
PLEKHA1
4 0.925 0.120 10 122427198 intron variant C/T snv 0.46 0.700 1.000 1 2013 2013