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: rs17103488
rs17103488
PLEKHA1
1 1.000 0.040 10 122394653 intron variant T/C snv 0.11 0.700 1.000 1 2013 2013