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: rs159058
rs159058
4 20 32520305 intron variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs5841107
rs5841107
1 20 32537781 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTTTTTTTT delins 0.42 0.700 1.000 1 2016 2016