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: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2018 2018
dbSNP: rs112844193
rs112844193
2 0.925 0.160 1 245175674 intron variant C/T snv 6.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs112941217
rs112941217
2 0.925 0.160 1 156087626 intron variant T/C snv 2.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2001 2001
dbSNP: rs3779381
rs3779381
3 0.925 0.160 7 121326736 intron variant A/G snv 0.29 0.700 1.000 1 2019 2019