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: rs12883091
rs12883091
2 14 102202685 intron variant G/A snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs57236717
rs57236717
2 14 102148541 intron variant AAA/-;A;AA;AAAA;AAAAA;AAAAAA;AAAAAAAAAA delins 0.700 1.000 1 2016 2016