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: rs6689335
rs6689335
3 1 219455340 intron variant T/C snv 0.31 0.700 1.000 2 2017 2019
dbSNP: rs12027371
rs12027371
1 1 219463199 upstream gene variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2785980
rs2785980
3 1 219527177 intergenic variant T/C snv 0.28 0.700 1.000 1 2012 2012