Source: ALL
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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.842 38 2003 2020
dbSNP: rs373611092
rs373611092
5 0.925 0.160 22 19962794 missense variant A/G snv 8.4E-05 4.9E-05 0.050 1.000 5 2009 2019
dbSNP: rs4633
rs4633
25 0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45 0.050 0.800 5 2012 2019
dbSNP: rs4818
rs4818
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.050 1.000 5 2012 2019
dbSNP: rs165774
rs165774
11 0.807 0.120 22 19965038 3 prime UTR variant G/A snv 0.27 0.040 1.000 4 2013 2018
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.030 1.000 3 2010 2020
dbSNP: rs6269
rs6269
10 0.827 0.240 22 19962429 5 prime UTR variant A/G snv 0.38 0.030 1.000 3 2014 2019
dbSNP: rs6267
rs6267
9 0.827 0.200 22 19962740 missense variant G/A;T snv 4.8E-05; 1.4E-02 0.020 1.000 2 2014 2017
dbSNP: rs5993882
rs5993882
2 22 19950010 intron variant T/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs740603
rs740603
3 0.925 0.040 22 19957654 intron variant A/G snv 0.48 0.010 1.000 1 2019 2019