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: rs74315377
rs74315377
1 1.000 0.120 1 168291339 missense variant C/T snv 4.0E-06 0.800 1.000 1 2001 2001
dbSNP: rs74315378
rs74315378
1 1.000 0.120 1 168291213 missense variant T/G snv 0.710 1.000 1 2007 2007
dbSNP: rs988133284
rs988133284
1 1.000 0.120 1 68439224 stop gained G/A;C snv 2.1E-05 0.700 1.000 1 2018 2018
dbSNP: rs140528998
rs140528998
1 1.000 0.120 1 168297747 stop gained C/G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs1553289042
rs1553289042
1 1.000 0.120 1 168293243 stop gained C/T snv 0.700 0
dbSNP: rs1558190339
rs1558190339
1 1.000 0.120 1 168291219 frameshift variant C/- delins 0.700 0
dbSNP: rs1558192351
rs1558192351
1 1.000 0.120 1 168297785 splice donor variant G/- delins 0.700 0
dbSNP: rs28931591
rs28931591
4 0.882 0.160 20 63350560 missense variant G/A snv 0.700 0
dbSNP: rs730880274
rs730880274
1 1.000 0.120 1 168305061 frameshift variant A/- delins 0.700 0
dbSNP: rs74315376
rs74315376
1 1.000 0.120 1 168305136 stop gained C/T snv 2.4E-05 4.9E-05 0.700 0
dbSNP: rs763818059
rs763818059
1 1.000 0.120 1 168281245 frameshift variant GA/- delins 1.4E-05 0.700 0