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: rs8095374
rs8095374
2 18 46213522 intron variant T/C snv 0.43 0.700 1.000 1 2017 2017
dbSNP: rs8095142
rs8095142
2 18 46213842 intron variant G/A snv 0.64 0.700 1.000 1 2018 2018
dbSNP: rs6507691
rs6507691
1 18 46228682 intron variant T/C;G snv 0.700 1.000 1 2016 2016