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: rs121918524
rs121918524
PHF8
6 0.827 0.200 X 54011232 missense variant A/G snv 0.800 1.000 9 2005 2010
dbSNP: rs1057518729
rs1057518729
PHF8
1 1.000 0.080 X 54017738 frameshift variant A/- del 0.700 0
dbSNP: rs121918522
rs121918522
PHF8
1 1.000 0.080 X 54014529 stop gained G/A snv 0.700 0
dbSNP: rs121918523
rs121918523
PHF8
3 0.925 0.200 X 54016662 stop gained T/A snv 0.700 0