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: rs1555912102
rs1555912102
PTCHD1
1 1.000 X 23380132 stop gained G/A snv 0.700 0
dbSNP: rs878854360
rs878854360
PTCHD1
1 1.000 X 23393645 frameshift variant C/- delins 0.700 0
dbSNP: rs878854361
rs878854361
PTCHD1
1 1.000 X 23392961 frameshift variant C/- delins 0.700 0
dbSNP: rs879255587
rs879255587
PTCHD1
1 1.000 X 23393312 frameshift variant -/A delins 0.700 0