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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.040 1.000 4 2011 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.030 1.000 3 2011 2016
dbSNP: rs11204922
rs11204922
1 1.000 0.040 1 151989099 intron variant T/C snv 0.33 0.010 1.000 1 2018 2018
dbSNP: rs11466155
rs11466155
1 1.000 0.040 17 49510638 synonymous variant C/T snv 0.31 0.25 0.010 1.000 1 2018 2018
dbSNP: rs1187323
rs1187323
5 0.882 0.080 9 84668501 upstream gene variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1212171
rs1212171
8 0.851 0.120 9 84667612 upstream gene variant C/T snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs12837651
rs12837651
1 1.000 0.040 X 114629635 intron variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1415125856
rs1415125856
7 0.827 0.120 11 27658550 splice region variant G/A snv 4.0E-06 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs144643855
rs144643855
1 1.000 0.040 10 69573087 intron variant TG/- del 0.23 0.010 1.000 1 2019 2019
dbSNP: rs17406271
rs17406271
1 1.000 0.040 1 204427600 intron variant A/C snv 0.11 0.15 0.010 1.000 1 2019 2019
dbSNP: rs1778929
rs1778929
1 1.000 0.040 9 84707625 intron variant T/C snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs2049046
rs2049046
6 0.827 0.200 11 27702228 intron variant T/A snv 0.48 0.010 1.000 1 2018 2018
dbSNP: rs2072446
rs2072446
11 0.776 0.160 17 49510457 missense variant C/T snv 5.2E-02 4.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs2192371
rs2192371
1 1.000 0.040 X 114655361 intron variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs2271419
rs2271419
1 1.000 0.040 1 204429933 synonymous variant A/G snv 4.0E-06; 0.10 0.14 0.010 1.000 1 2019 2019
dbSNP: rs2271420
rs2271420
1 1.000 0.040 1 204429936 synonymous variant G/A;C snv 0.10; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs55674402
rs55674402
1 1.000 0.040 3 184038954 synonymous variant C/T snv 0.37 0.33 0.010 1.000 1 2019 2019
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2016 2016
dbSNP: rs727155
rs727155
1 1.000 0.040 11 27728902 intron variant C/T snv 8.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs7816
rs7816
1 1.000 0.040 9 84815606 3 prime UTR variant T/A snv 0.75 0.010 1.000 1 2018 2018
dbSNP: rs7931247
rs7931247
1 1.000 0.040 11 27725444 intron variant T/C snv 0.48 0.010 1.000 1 2018 2018
dbSNP: rs8178895
rs8178895
1 1.000 0.040 8 42174861 3 prime UTR variant T/C snv 0.10 0.010 1.000 1 2018 2018