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: rs72725854
rs72725854
PCAT1
2 0.925 0.080 8 127062570 intron variant A/G;T snv 0.710 1.000 1 2018 2018