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: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2005 2005
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2013 2013
dbSNP: rs869312780
rs869312780
2 0.925 0.120 10 87957983 frameshift variant AG/- delins 0.700 0
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1138272
rs1138272
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2005 2005
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2019 2019
dbSNP: rs1161136341
rs1161136341
2 0.925 0.080 7 18591621 missense variant G/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs3761549
rs3761549
18 0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs63750206
rs63750206
9 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.700 0
dbSNP: rs774238794
rs774238794
2 0.925 0.080 7 18644690 missense variant G/A;T snv 4.1E-05; 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs80359763
rs80359763
5 0.851 0.240 13 32394864 frameshift variant GT/- delins 0.700 0
dbSNP: rs80357796
rs80357796
11 0.752 0.240 17 43094464 frameshift variant T/- del 0.010 1.000 1 2000 2000
dbSNP: rs1799950
rs1799950
13 0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02 0.010 1.000 1 2000 2000
dbSNP: rs267608058
rs267608058
6 0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06 0.700 0