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: rs10130587
rs10130587
5 0.851 0.200 14 53952392 intron variant G/C snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs17563
rs17563
8 0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44 0.010 1.000 1 2018 2018