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: rs1057518903
rs1057518903
6 0.882 0.160 11 64807890 splice region variant C/- delins 0.700 0
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2007 2007
dbSNP: rs10818854
rs10818854
6 0.851 0.200 9 123684499 intron variant G/A snv 5.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs12478601
rs12478601
5 0.851 0.200 2 43494369 intron variant C/T snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs13405728
rs13405728
8 0.790 0.200 2 48751020 intron variant A/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs13429458
rs13429458
6 0.827 0.200 2 43411699 intron variant A/C snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs2059807
rs2059807
7 0.851 0.200 19 7166098 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs4385527
rs4385527
6 0.827 0.280 9 94886305 intron variant G/A snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs121913364
rs121913364
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.020 1.000 2 2003 2016
dbSNP: rs17759659
rs17759659
4 0.851 0.120 18 63291411 intron variant A/G snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs2234767
rs2234767
30 0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2017 2017
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 2003 2018
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 1.000 3 2003 2018