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: rs12515180
rs12515180
1 5 132449992 intron variant C/T snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs2248116
rs2248116
3 1.000 0.040 5 132468655 intron variant C/A snv 0.70 0.700 1.000 1 2016 2016