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: rs10903323
rs10903323
8 0.807 0.160 8 10292057 intron variant A/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs8108236
rs8108236
2 0.925 0.120 19 10355156 intron variant G/A snv 9.3E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs12720356
rs12720356
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs280519
rs280519
10 0.752 0.320 19 10362257 splice region variant A/C;G snv 0.50 0.010 1.000 1 2016 2016
dbSNP: rs2304256
rs2304256
13 0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23 0.010 1.000 1 2016 2016
dbSNP: rs12720270
rs12720270
4 0.851 0.240 19 10365084 intron variant G/A snv 0.21 0.16 0.010 < 0.001 1 2016 2016
dbSNP: rs280523
rs280523
2 0.925 0.120 19 10366530 synonymous variant G/A;C snv 7.2E-02; 4.0E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs280500
rs280500
3 0.882 0.200 19 10379726 5 prime UTR variant A/G snv 0.20 0.010 < 0.001 1 2016 2016
dbSNP: rs2230926
rs2230926
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2003 2003
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs11265618
rs11265618
2 1.000 0.080 1 154457616 intron variant C/T snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs4329505
rs4329505
3 0.925 0.120 1 154459944 intron variant T/C snv 0.22 0.010 1.000 1 2018 2018
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 2005 2005
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs11466657
rs11466657
3 0.925 0.120 4 38774173 missense variant A/G snv 2.7E-02; 4.0E-06 2.4E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs774359492
rs774359492
7 0.807 0.200 14 55008684 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs11541076
rs11541076
2 1.000 0.080 12 66254548 3 prime UTR variant A/T snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs461266
rs461266
2 1.000 0.080 13 93033713 intron variant T/C snv 0.010 1.000 1 2018 2018