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: rs564398
rs564398
18 0.716 0.360 9 22029548 3 prime UTR variant T/C snv 0.31 0.28 0.800 1.000 2 2011 2018
dbSNP: rs10738606
rs10738606
2 1.000 0.040 9 22088091 intron variant A/T snv 0.42 0.010 1.000 1 2019 2019
dbSNP: rs2383205
rs2383205
3 0.925 0.080 9 22060936 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1333049
rs1333049
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.900 1.000 28 2007 2020
dbSNP: rs3217992
rs3217992
22 0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32 0.010 1.000 1 2020 2020