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: rs1557084120
rs1557084120
2 1.000 X 49075874 stop gained G/A snv 0.700 1.000 10 2010 2017
dbSNP: rs387907329
rs387907329
10 0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 0.700 1.000 10 2010 2017