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: rs6595838
rs6595838
2 5 128532506 intron variant G/A snv 0.41 0.700 1.000 3 2017 2019
dbSNP: rs17677603
rs17677603
2 5 128521800 intron variant A/G snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs7705439
rs7705439
1 5 128488892 intron variant A/G snv 0.51 0.700 1.000 1 2018 2018