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: rs111653425
rs111653425
1 17 19571562 missense variant C/T snv 6.4E-03 6.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs2453580
rs2453580
4 17 19535008 non coding transcript exon variant T/C snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs894680
rs894680
2 17 19537225 intron variant G/A snv 0.29 0.700 1.000 1 2017 2017