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: rs36013391
rs36013391
1 3 141497704 intron variant AAAAAA/-;AAAA;AAAAA;AAAAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs6776003
rs6776003
2 1.000 0.080 3 141547651 intron variant G/A snv 0.55 0.700 1.000 1 2012 2012
dbSNP: rs79308158
rs79308158
2 3 141529673 intron variant A/C;G snv 4.8E-02 0.700 1.000 1 2016 2016