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: rs1421811
rs1421811
1 5 32714164 intron variant C/G;T snv 0.700 1.000 2 2011 2014
dbSNP: rs1173756
rs1173756
1 5 32789746 3 prime UTR variant T/C snv 0.56 0.60 0.700 1.000 1 2011 2011