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: rs1800754
rs1800754
2 1.000 0.040 22 42141587 stop gained G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2743461
rs2743461
2 22 42144550 5 prime UTR variant G/A snv 0.60 0.700 1.000 1 2019 2019
dbSNP: rs36093924
rs36093924
1 22 42142389 intron variant T/C snv 0.52 0.700 1.000 1 2017 2017
dbSNP: rs5758605
rs5758605
1 22 42145348 non coding transcript exon variant A/G snv 0.64 0.700 1.000 1 2018 2018