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: rs1060105
rs1060105
3 0.925 0.120 12 123321672 missense variant C/T snv 0.19 0.16 0.700 1.000 1 2018 2018
dbSNP: rs56116847
rs56116847
1 1.000 0.040 12 123350686 intron variant G/A snv 0.29 0.700 1.000 1 2019 2019