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: rs1379395211
rs1379395211
1 17 82032779 missense variant C/G;T snv 0.700 0
dbSNP: rs1555610590
rs1555610590
NXN
1 17 822445 stop gained G/A snv 0.700 0
dbSNP: rs1556022962
rs1556022962
1 X 133304782 missense variant C/T snv 0.700 0