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: rs1060505033
rs1060505033
2 1.000 0.200 X 85264383 missense variant T/C snv 0.800 1.000 2 2009 2017
dbSNP: rs1555970404
rs1555970404
3 0.882 0.200 X 85255275 frameshift variant -/A delins 0.700 1.000 2 2009 2017
dbSNP: rs367654949
rs367654949
1 1.000 0.200 X 85255595 missense variant G/A;C snv 4.9E-05; 5.5E-06 0.700 1.000 2 2009 2017
dbSNP: rs760346140
rs760346140
1 1.000 0.200 X 85271344 missense variant A/G snv 5.5E-06 2.8E-05 0.700 1.000 2 2009 2017
dbSNP: rs777239465
rs777239465
1 1.000 0.200 X 85265160 missense variant A/G snv 3.8E-05 3.8E-05 0.700 1.000 2 2009 2017
dbSNP: rs1060505032
rs1060505032
1 1.000 0.200 X 85271595 frameshift variant T/- delins 0.700 0
dbSNP: rs1555974716
rs1555974716
2 1.000 0.200 X 85270774 frameshift variant -/A delins 0.700 0
dbSNP: rs199422240
rs199422240
1 1.000 0.200 X 85271115 stop gained A/T snv 0.700 0