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: rs5756931
rs5756931
1 22 38150026 non coding transcript exon variant T/A;C snv 0.800 1.000 2 2010 2018
dbSNP: rs2277844
rs2277844
1 22 38181508 intron variant G/A snv 0.53 0.800 1.000 1 2012 2016
dbSNP: rs133029
rs133029
1 22 38180308 intron variant C/T snv 0.11 0.700 1.000 1 2012 2012