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: rs5219
rs5219
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.900 0.906 64 1998 2019
dbSNP: rs5215
rs5215
7 0.827 0.160 11 17387083 missense variant C/T snv 0.64 0.71 0.860 0.941 17 2007 2018
dbSNP: rs2074314
rs2074314
1 1.000 0.080 11 17390274 upstream gene variant C/T snv 0.72 0.800 1.000 2 2011 2019
dbSNP: rs1554901596
rs1554901596
2 0.925 0.080 11 17387124 frameshift variant -/C delins 0.700 0
dbSNP: rs267607196
rs267607196
5 0.827 0.160 11 17387248 missense variant C/T snv 2.4E-05 2.8E-05 0.700 0
dbSNP: rs5210
rs5210
1 1.000 0.080 11 17386704 3 prime UTR variant G/A;C snv 0.030 1.000 3 2012 2017
dbSNP: rs1800467
rs1800467
1 1.000 0.080 11 17387284 missense variant G/C;T snv 4.0E-02; 2.8E-05 0.020 0.500 2 2014 2015
dbSNP: rs142577961
rs142577961
1 1.000 0.080 11 17387813 synonymous variant G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2003 2003
dbSNP: rs2285676
rs2285676
2 0.925 0.120 11 17386478 3 prime UTR variant A/G snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs41282930
rs41282930
1 1.000 0.080 11 17386938 missense variant G/A;C snv 4.0E-06; 4.6E-03 0.010 1.000 1 2014 2014
dbSNP: rs5218
rs5218
1 1.000 0.080 11 17387522 synonymous variant G/A;T snv 0.26; 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs750778014
rs750778014
1 1.000 0.080 11 17387517 missense variant C/A;T snv 4.0E-06; 8.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs774714794
rs774714794
1 1.000 0.080 11 17388012 missense variant C/T snv 1.6E-05 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs80356610
rs80356610
6 0.827 0.080 11 17387968 missense variant A/G snv 0.010 1.000 1 2005 2005