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: rs2710642
rs2710642
3 2 62922422 intron variant G/A snv 0.72 0.800 1.000 3 2013 2018
dbSNP: rs360801
rs360801
1 2 62728252 intron variant A/C;G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs360804
rs360804
2 2 62712262 intron variant G/A snv 0.29 0.700 1.000 1 2019 2019