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: rs4737010
rs4737010
6 8 41772929 intron variant G/A snv 0.32 0.700 1.000 2 2017 2019
dbSNP: rs1819953
rs1819953
2 8 41808436 intron variant G/A snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs6150565
rs6150565
3 8 41655063 3 prime UTR variant AGAGTCTATACAGC/-;AGAGTCTATACAGCAGAGTCTATACAGC delins 0.700 1.000 1 2017 2017
dbSNP: rs72638977
rs72638977
2 8 41683104 intron variant A/G snv 1.8E-02 0.700 1.000 1 2019 2019