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: rs12284594
rs12284594
2 1.000 0.080 11 125309957 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.060 0.833 6 2001 2016
dbSNP: rs17174638
rs17174638
1 1.000 0.080 6 154039434 stop gained C/T snv 6.3E-03 3.1E-02 0.020 0.500 2 2000 2003
dbSNP: rs1042114
rs1042114
6 0.807 0.120 1 28812463 missense variant G/C;T snv 0.91 0.010 1.000 1 2008 2008
dbSNP: rs1051660
rs1051660
3 1.000 0.080 8 53251002 synonymous variant C/A;T snv 0.11 0.010 1.000 1 2007 2007
dbSNP: rs10654394
rs10654394
1 1.000 0.080 2 25161588 inframe insertion CGCTGCTGC/-;CGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC delins 3.9E-05 0.010 < 0.001 1 2012 2012
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2011 2011
dbSNP: rs13273442
rs13273442
4 0.882 0.080 8 42688874 intergenic variant A/G snv 0.66 0.010 < 0.001 1 2014 2014
dbSNP: rs165774
rs165774
11 0.807 0.120 22 19965038 3 prime UTR variant G/A snv 0.27 0.010 < 0.001 1 2011 2011
dbSNP: rs1799972
rs1799972
6 0.827 0.080 6 154039561 missense variant C/A;G;T snv 4.1E-06; 1.7E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs1868152
rs1868152
2 0.925 0.080 3 186502274 intergenic variant A/G;T snv 0.85 0.010 1.000 1 2018 2018
dbSNP: rs2023239
rs2023239
20 0.724 0.160 6 88150763 intron variant T/C snv 0.21 0.010 1.000 1 2006 2006
dbSNP: rs2066702
rs2066702
7 0.882 0.080 4 99307860 missense variant G/A snv 1.5E-02 5.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs2281285
rs2281285
2 0.925 0.080 20 1991814 intron variant T/C snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs2629540
rs2629540
4 0.925 0.080 10 124737579 intron variant G/C snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs2952621
rs2952621
4 0.882 0.080 2 129240870 downstream gene variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2006 2006
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 < 0.001 1 2011 2011
dbSNP: rs6454674
rs6454674
5 0.851 0.120 6 88163211 intron variant T/G snv 0.32 0.010 1.000 1 2007 2007