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: rs2293370
rs2293370
3 0.882 0.160 3 119501087 intron variant G/A snv 0.18 0.810 1.000 7 2011 2019
dbSNP: rs1131265
rs1131265
3 0.882 0.200 3 119503609 stop lost G/C snv 0.18 0.18 0.700 1.000 1 2012 2012