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: rs1188571702
rs1188571702
1 1.000 0.080 1 173903962 missense variant A/G snv 0.700 0
dbSNP: rs121909560
rs121909560
1 1.000 0.080 1 173909737 frameshift variant CT/- delins 0.700 0
dbSNP: rs121909561
rs121909561
1 1.000 0.080 1 173909681 frameshift variant TCCA/- delins 0.700 0
dbSNP: rs121909570
rs121909570
1 1.000 0.080 1 173911923 missense variant T/C;G snv 0.700 0
dbSNP: rs1301351856
rs1301351856
1 1.000 0.080 1 173903973 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1411331203
rs1411331203
1 1.000 0.080 1 173914564 missense variant G/T snv 7.0E-06 0.700 0
dbSNP: rs147266200
rs147266200
1 1.000 0.080 1 173914696 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs28929469
rs28929469
1 1.000 0.080 1 173914795 missense variant G/A snv 2.0E-05 7.0E-06 0.800 0
dbSNP: rs398124401
rs398124401
26 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
dbSNP: rs765445413
rs765445413
1 1.000 0.080 1 173911974 missense variant T/G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs786204063
rs786204063
1 1.000 0.080 1 173911959 inframe deletion AAG/- delins 0.700 0
dbSNP: rs863224495
rs863224495
1 1.000 0.080 1 173909645 frameshift variant G/- delins 0.700 0
dbSNP: rs907768931
rs907768931
1 1.000 0.080 1 173914677 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs121909552
rs121909552
2 0.925 0.080 1 173914725 missense variant C/T snv 9.5E-05 1.7E-04 0.800 1.000 26 1984 2017
dbSNP: rs121909551
rs121909551
1 1.000 0.080 1 173914743 missense variant G/A snv 8.2E-04 9.0E-04 0.800 1.000 27 1986 2019
dbSNP: rs121909546
rs121909546
1 1.000 0.080 1 173903978 missense variant C/T snv 0.800 1.000 23 1986 2013
dbSNP: rs121909547
rs121909547
1 1.000 0.080 1 173914726 missense variant G/A;T snv 4.8E-05 0.800 1.000 22 1986 2019
dbSNP: rs121909548
rs121909548
1 1.000 0.080 1 173904038 missense variant C/A;G snv 8.9E-04 0.800 1.000 21 1986 2013
dbSNP: rs121909549
rs121909549
1 1.000 0.080 1 173904010 missense variant C/G;T snv 4.0E-06 0.800 1.000 21 1986 2013
dbSNP: rs121909550
rs121909550
1 1.000 0.080 1 173904007 missense variant G/A;C snv 0.800 1.000 21 1986 2013
dbSNP: rs121909554
rs121909554
1 1.000 0.080 1 173904011 missense variant G/A snv 4.0E-06 0.800 1.000 21 1986 2013
dbSNP: rs121909555
rs121909555
1 1.000 0.080 1 173903968 missense variant G/A snv 0.800 1.000 21 1986 2013
dbSNP: rs121909557
rs121909557
1 1.000 0.080 1 173904044 missense variant C/T snv 0.800 1.000 21 1986 2013
dbSNP: rs121909558
rs121909558
1 1.000 0.080 1 173914845 missense variant A/T snv 0.800 1.000 21 1986 2013
dbSNP: rs121909564
rs121909564
1 1.000 0.080 1 173903902 missense variant G/A snv 0.800 1.000 21 1986 2013