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: rs9491696
rs9491696
2 6 127131494 intron variant C/G snv 0.45 0.800 1.000 2 2010 2015
dbSNP: rs7745274
rs7745274
1 6 127188012 intron variant G/A snv 0.56 0.800 1.000 1 2013 2013
dbSNP: rs577721086
rs577721086
1 6 127118902 splice region variant T/C snv 3.3E-02 0.700 1.000 3 2017 2019
dbSNP: rs1936805
rs1936805
3 6 127130971 intron variant C/T snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs72959041
rs72959041
5 6 127133748 intron variant G/A snv 3.2E-02 0.700 1.000 1 2019 2019