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
5 0.827 0.280 7 128948946 3 prime UTR variant T/C snv 9.0E-02 0.730 0.750 3 2007 2015
dbSNP: rs2004640
rs2004640
24 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.100 0.889 18 2006 2019
dbSNP: rs10954213
rs10954213
10 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