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: rs4942486
rs4942486
2 13 32379251 intron variant T/C snv 0.52 0.800 1.000 3 2013 2018
dbSNP: rs1799955
rs1799955
3 0.925 0.080 13 32355095 synonymous variant A/G;T snv 0.23; 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs9534275
rs9534275
7 0.851 0.080 13 32366208 intron variant C/A snv 0.52 0.700 1.000 1 2012 2012