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: rs10076782
rs10076782
1 5 159177955 intron variant G/A snv 0.41 0.800 1.000 1 2011 2011
dbSNP: rs1473247
rs1473247
2 1.000 0.040 5 159176563 intron variant T/C snv 0.41 0.800 1.000 1 2009 2009
dbSNP: rs55801554
rs55801554
1 5 159195524 intron variant C/A snv 0.25 0.700 1.000 1 2016 2016