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: rs786205208
rs786205208
4 0.925 X 74742675 stop gained G/A snv 0.700 1.000 11 2004 2017
dbSNP: rs886041701
rs886041701
3 0.925 X 74743116 stop gained G/A snv 0.700 1.000 11 2004 2017