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: rs13014235
rs13014235
5 0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63 0.700 1.000 1 2015 2015
dbSNP: rs2080303
rs2080303
3 0.882 0.040 2 201300483 intron variant T/C snv 0.72 0.700 1.000 1 2016 2016
dbSNP: rs6714430
rs6714430
3 0.882 0.040 2 201288961 intron variant C/T snv 0.72 0.700 1.000 1 2019 2019