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: rs179363867
rs179363867
2 0.925 0.160 X 154563577 missense variant G/A snv 0.710 1.000 9 2005 2015
dbSNP: rs782604431
rs782604431
1 1.000 0.120 X 154552187 missense variant G/A snv 2.4E-05 1.0E-04 0.700 1.000 1 2018 2018
dbSNP: rs137853324
rs137853324
1 1.000 0.120 X 154564372 stop gained G/T snv 0.700 0
dbSNP: rs137853325
rs137853325
2 0.925 0.160 X 154564450 missense variant T/C snv 0.700 0
dbSNP: rs137853326
rs137853326
3 0.882 0.160 X 154564451 missense variant G/A;T snv 0.700 0
dbSNP: rs137853327
rs137853327
3 0.882 0.160 X 154564418 missense variant A/T snv 0.700 0
dbSNP: rs137853328
rs137853328
2 0.925 0.160 X 154558590 missense variant T/G snv 0.700 0
dbSNP: rs137853329
rs137853329
1 1.000 0.120 X 154564408 stop gained C/T snv 0.700 0
dbSNP: rs137853330
rs137853330
2 0.925 0.160 X 154562904 missense variant C/G snv 0.700 0
dbSNP: rs1569556603
rs1569556603
1 1.000 0.120 X 154561789 splice region variant G/A snv 0.700 0
dbSNP: rs386134238
rs386134238
1 1.000 0.120 X 154556238 inframe deletion GAG/- delins 0.700 0
dbSNP: rs386134240
rs386134240
1 1.000 0.120 X 154558602 missense variant A/C snv 0.700 0
dbSNP: rs782178147
rs782178147
2 0.925 0.120 X 154564361 frameshift variant -/C delins 0.700 0