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: rs1556334793
rs1556334793
2 1.000 X 71122558 frameshift variant G/- delins 0.700 1.000 14 1993 2016
dbSNP: rs1556340124
rs1556340124
2 1.000 X 71141320 stop gained C/T snv 0.700 1.000 14 1993 2016