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: rs1186757238
rs1186757238
2 1.000 0.040 5 59039089 5 prime UTR variant A/C snv 0.010 1.000 1 2008 2008
dbSNP: rs152312
rs152312
3 0.925 0.080 5 60491989 non coding transcript exon variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs2910829
rs2910829
3 0.925 0.080 5 60174072 intron variant G/A snv 0.52 0.010 1.000 1 2009 2009
dbSNP: rs397514465
rs397514465
3 0.925 0.280 5 59193507 missense variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs456009
rs456009
1 5 60500907 intron variant G/A snv 0.38 0.010 1.000 1 2009 2009
dbSNP: rs702553
rs702553
6 0.882 0.160 5 60440946 intron variant A/T snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs918592
rs918592
2 1.000 0.080 5 60401476 intron variant C/T snv 0.36 0.010 < 0.001 1 2006 2006
dbSNP: rs966221
rs966221
2 1.000 0.080 5 60206693 intron variant A/G snv 0.57 0.010 1.000 1 2009 2009