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: rs12712127
rs12712127
3 2 102110201 intron variant A/G snv 0.62 0.800 1.000 1 2013 2013
dbSNP: rs1558643
rs1558643
1 2 102115231 intron variant T/C;G snv 0.700 1.000 2 2016 2017