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: rs11242111
rs11242111
1 5 132420366 intron variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs2106854
rs2106854
1 5 132433482 intron variant C/T snv 0.23 0.800 1.000 1 2013 2013
dbSNP: rs2522056
rs2522056
2 5 132466034 intron variant G/A snv 0.25 0.800 1.000 1 2009 2009
dbSNP: rs1012793
rs1012793
1 5 132445653 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs2057655
rs2057655
1 5 132471932 non coding transcript exon variant G/A snv 0.24 0.700 1.000 1 2016 2016