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: rs1556411578
rs1556411578
4 X 108595507 coding sequence variant AAGGTGACA/- delins 0.700 0
dbSNP: rs1556445736
rs1556445736
5 0.925 0.200 X 108667167 synonymous variant A/G snv 0.700 0
dbSNP: rs1556463583
rs1556463583
2 X 108695350 frameshift variant -/A delins 0.700 0
dbSNP: rs281874674
rs281874674
8 0.827 0.280 X 108597479 missense variant G/C;T snv 0.700 0