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: rs312262830
rs312262830
OFD1
4 0.882 0.160 X 13739017 frameshift variant GAAA/- delins 0.700 1.000 1 2008 2008
dbSNP: rs312262890
rs312262890
OFD1
3 0.882 0.200 X 13760583 frameshift variant AAAG/-;AAAGAAAG delins 0.700 0
dbSNP: rs387906726
rs387906726
PIGA
3 0.925 0.040 X 15321727 stop gained G/A snv 0.010 1.000 1 2016 2016