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: rs16851483
rs16851483
4 0.925 0.080 3 141556594 intron variant G/T snv 6.7E-02 0.700 1.000 6 2015 2019
dbSNP: rs2035935
rs2035935
2 3 141587171 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs295322
rs295322
1 3 141607760 splice region variant T/C snv 0.12 0.13 0.700 1.000 1 2018 2018
dbSNP: rs3732869
rs3732869
2 3 141576936 intron variant T/A snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs3821709
rs3821709
1 3 141561431 intron variant T/C snv 6.7E-02 0.700 1.000 1 2019 2019