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: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.040 1.000 4 2017 2019
dbSNP: rs507392
rs507392
EPO
2 0.925 0.160 7 100722313 intron variant G/A;C snv 0.030 1.000 3 2010 2017
dbSNP: rs1927911
rs1927911
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.020 1.000 2 2014 2015
dbSNP: rs39059
rs39059
1 1.000 0.120 7 29215854 intron variant A/G snv 0.32 0.020 1.000 2 2011 2015
dbSNP: rs4838605
rs4838605
4 0.882 0.160 10 48491914 intron variant C/T snv 0.38 0.810 1.000 2 2011 2014
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.020 1.000 2 2014 2015
dbSNP: rs869109213
rs869109213
10 0.790 0.200 7 150997269 intron variant GGGGGTGAGGAAGTCTAGACCTGCTGCG/A delins 0.020 1.000 2 2018 2019
dbSNP: rs9362054
rs9362054
3 0.882 0.160 6 84468550 intron variant T/C snv 0.52 0.710 1.000 2 2014 2019
dbSNP: rs1002630
rs1002630
2 0.925 0.160 7 29388454 intron variant G/A snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs10491034
rs10491034
1 1.000 0.120 10 48602322 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs10507875
rs10507875
3 0.925 0.160 13 77943119 intron variant A/G snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs1073203
rs1073203
4 0.882 0.160 5 125983763 intron variant C/G snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs11196205
rs11196205
7 0.827 0.200 10 113047288 intron variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs11567245
rs11567245
1 1.000 0.120 7 82151406 intron variant T/A snv 0.010 < 0.001 1 2019 2019
dbSNP: rs12050217
rs12050217
6 0.827 0.160 14 96262416 intron variant A/G snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs12267418
rs12267418
3 0.882 0.280 10 19425625 intron variant G/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs1249719
rs1249719
2 1.000 0.120 9 114235944 intron variant G/A snv 6.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs12656571
rs12656571
1 1.000 0.120 5 109742339 intron variant G/A snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs13163610
rs13163610
1 1.000 0.120 5 94213172 intron variant A/C snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs139876191
rs139876191
1 1.000 0.120 6 34242693 intron variant -/C delins 7.7E-02; 5.8E-06 5.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs142293996
rs142293996
NVL
1 1.000 0.120 1 224260357 intron variant C/A snv 1.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs148995025
rs148995025
1 1.000 0.120 5 7085094 intron variant A/G snv 8.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs1535724
rs1535724
1 1.000 0.120 13 75609137 intron variant G/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1571942
rs1571942
2 0.925 0.160 10 20253705 intron variant A/G snv 0.15 0.800 1.000 1 2011 2011