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: rs132630287
rs132630287
1 1.000 0.080 X 103786691 missense variant C/T snv 0.800 1.000 10 1994 2014
dbSNP: rs132630288
rs132630288
1 1.000 0.080 X 103787904 missense variant T/C snv 0.800 1.000 10 1994 2014
dbSNP: rs878853076
rs878853076
1 1.000 0.080 X 103786661 missense variant C/T snv 0.700 1.000 10 1994 2014
dbSNP: rs886044450
rs886044450
1 1.000 0.080 X 103786726 splice acceptor variant G/A snv 0.700 1.000 3 1995 2006
dbSNP: rs132630292
rs132630292
2 0.925 0.120 X 103786707 stop gained G/A snv 0.700 1.000 1 1997 1997
dbSNP: rs1060500909
rs1060500909
2 0.925 0.120 X 103785717 missense variant T/C snv 0.700 0
dbSNP: rs1135401759
rs1135401759
3 0.925 0.080 X 103786638 missense variant A/G snv 0.700 0
dbSNP: rs132630291
rs132630291
1 1.000 0.080 X 103789346 missense variant T/C snv 0.700 0
dbSNP: rs132630294
rs132630294
1 1.000 0.080 X 103787853 missense variant C/T snv 0.700 0
dbSNP: rs1556267287
rs1556267287
1 1.000 0.080 X 103786688 frameshift variant TGTC/AGT delins 0.700 0
dbSNP: rs1556273167
rs1556273167
1 1.000 0.080 X 103790581 stop gained C/T snv 0.700 0
dbSNP: rs398123467
rs398123467
2 0.925 0.120 X 103789373 missense variant G/C snv 0.700 0
dbSNP: rs864622194
rs864622194
3 0.925 0.080 X 103776997 start lost T/C;G snv 0.700 0