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: rs1555366592
rs1555366592
1 1.000 0.080 14 64767686 frameshift variant -/AA delins 0.700 0
dbSNP: rs1555366607
rs1555366607
5 1.000 0.080 14 64767787 missense variant A/G snv 0.700 0
dbSNP: rs1566754467
rs1566754467
1 1.000 0.080 14 64782493 stop gained C/A snv 0.700 0
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2003 2009
dbSNP: rs5035
rs5035
1 1.000 0.080 17 44261630 missense variant T/A;G snv 1.2E-05; 3.4E-02 0.020 1.000 2 1997 2018
dbSNP: rs121912748
rs121912748
9 0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs121912755
rs121912755
2 0.925 0.080 17 44253150 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs137853583
rs137853583
GPI
5 0.827 0.080 19 34394044 missense variant G/A;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2003 2003
dbSNP: rs2230294
rs2230294
GPI
4 0.851 0.080 19 34393927 missense variant G/A;T snv 2.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs750820522
rs750820522
1 1.000 0.080 8 41688541 stop gained G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs755966603
rs755966603
1 1.000 0.080 1 158644315 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2013 2013