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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2014 2014
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.030 1.000 3 2014 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs183606230
rs183606230
3 0.882 0.080 18 28013691 missense variant A/G snv 4.0E-06 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs879253942
rs879253942
28 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2014 2014
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 2016 2016
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2257205
rs2257205
2 0.925 0.080 17 58370936 missense variant C/A;T snv 4.1E-06; 4.1E-06; 0.16 0.14 0.010 1.000 1 2016 2016
dbSNP: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs368054556
rs368054556
2 0.925 0.040 8 41934056 missense variant C/G snv 1.6E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs754332870
rs754332870
9 0.790 0.240 17 7676240 missense variant C/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 1.000 3 2014 2017
dbSNP: rs1406835103
rs1406835103
1 1.000 0.040 3 169116446 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs768617095
rs768617095
4 0.851 0.080 3 65470335 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2014 2014
dbSNP: rs758272654
rs758272654
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2012 2014