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: rs150359707
rs150359707
1 17 74468010 intron variant ATTTATTTATTTATTT/-;ATTT;ATTTATTT;ATTTATTTATTT;ATTTATTTATTTATTTATTT;ATTTATTTATTTATTTATTTATTT;ATTTATTTATTTATTTATTTATTTATTT;ATTTATTTATTTATTTATTTATTTATTTATTT;ATTTATTTATTTATTTATTTATTTATTTATTTATTT delins 0.700 1.000 1 2018 2018
dbSNP: rs2272111
rs2272111
1 17 74473827 missense variant G/A snv 0.23 0.33 0.700 1.000 1 2018 2018
dbSNP: rs62087214
rs62087214
1 17 74471487 intron variant A/G snv 7.1E-02 0.700 1.000 1 2018 2018