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: rs121913492
rs121913492
11 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.750 1.000 6 2014 2019
dbSNP: rs1057519853
rs1057519853
6 0.851 0.080 9 77794572 missense variant TG/AA mnv 0.740 0.800 5 2014 2018
dbSNP: rs1057519742
rs1057519742
7 0.827 0.160 19 3118944 missense variant A/C;T snv 0.730 1.000 6 2011 2018
dbSNP: rs10758299
rs10758299
1 1.000 0.080 9 3526656 upstream gene variant A/C snv 0.12 0.700 1.000 1 2020 2020
dbSNP: rs10985729
rs10985729
2 0.925 0.080 9 122601929 intron variant A/G snv 0.25 0.700 1.000 1 2020 2020
dbSNP: rs11074306
rs11074306
1 1.000 0.080 15 27799396 intron variant G/A snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs13013614
rs13013614
1 1.000 0.080 2 140964558 intron variant A/G;T snv 0.700 1.000 1 2020 2020
dbSNP: rs138663667
rs138663667
1 1.000 0.080 7 82276774 intron variant G/T snv 0.13 0.700 1.000 1 2020 2020
dbSNP: rs2242330
rs2242330
1 1.000 0.080 4 67581531 intron variant A/G snv 0.20 0.700 1.000 1 2020 2020
dbSNP: rs3759710
rs3759710
2 0.925 0.080 14 89955214 5 prime UTR variant G/C snv 0.16 0.700 1.000 1 2020 2020
dbSNP: rs452932
rs452932
2 0.925 0.160 5 1330138 intron variant T/C snv 0.46 0.700 1.000 1 2017 2017
dbSNP: rs869025212
rs869025212
6 0.827 0.200 3 52403428 frameshift variant G/- delins 0.700 1.000 1 2015 2015
dbSNP: rs9307941
rs9307941
1 1.000 0.080 4 156195774 intergenic variant A/T snv 0.85 0.700 1.000 1 2020 2020
dbSNP: rs1559588632
rs1559588632
1 1.000 0.080 3 52405266 splice acceptor variant CATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAG/- delins 0.700 0
dbSNP: rs1568763104
rs1568763104
3 0.882 0.160 20 9409106 missense variant G/A;T snv 0.700 0
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.050 1.000 5 2004 2017
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 1.000 3 2013 2017
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2008 2008
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: rs200758755
rs200758755
2 1.000 0.080 3 129431556 stop gained A/G;T snv 4.0E-06; 3.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs387906849
rs387906849
2 0.925 0.080 3 52405897 stop gained G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs760583024
rs760583024
2 1.000 0.080 11 18934156 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2018 2018