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: rs4521516
rs4521516
1 5 88804134 intron variant G/C snv 0.15 0.800 1.000 1 2011 2011
dbSNP: rs114694170
rs114694170
5 1.000 0.040 5 88884379 non coding transcript exon variant T/C snv 3.6E-02 0.700 1.000 1 2016 2016