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: rs2070197
rs2070197
6 0.827 0.280 7 128948946 3 prime UTR variant T/C snv 9.0E-02 0.730 0.750 4 2007 2015
dbSNP: rs35000415
rs35000415
1 1.000 0.080 7 128945562 intron variant C/T snv 9.0E-02 0.700 1.000 3 2015 2017
dbSNP: rs3757387
rs3757387
6 0.851 0.280 7 128936032 upstream gene variant T/C snv 0.38 0.700 1.000 2 2015 2017
dbSNP: rs7808907
rs7808907
2 1.000 0.080 7 128944030 intron variant T/C snv 0.49 0.700 1.000 2 2011 2014
dbSNP: rs10954214
rs10954214
4 0.851 0.160 7 128949579 3 prime UTR variant C/T snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs113478424
rs113478424
1 1.000 0.080 7 128935744 upstream gene variant TTAGCTATTGCTCC/-;TTAGCTATTGCTCCTTAGCTATTGCTCC delins 0.700 1.000 1 2016 2016
dbSNP: rs2004640
rs2004640
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.100 0.889 18 2006 2019
dbSNP: rs10954213
rs10954213
11 0.752 0.200 7 128949373 3 prime UTR variant G/A snv 0.58 0.090 1.000 9 2007 2017
dbSNP: rs77571059
rs77571059
2 0.925 0.120 7 128937861 intron variant GGGGCGGGGC/-;GGGGC;GGGGCGGGGCGGGGC;GGGGCGGGGCGGGGCGGGGC;GGGGCGGGGCGGGGCGGGGCGGGGC delins 0.010 1.000 1 2013 2013