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: rs1966
rs1966
1 1.000 0.120 6 31139956 3 prime UTR variant C/T snv 0.23 0.21 0.700 1.000 2 2007 2009
dbSNP: rs3130559
rs3130559
3 0.925 0.160 6 31129524 intron variant C/T snv 0.28 0.700 1.000 2 2007 2009
dbSNP: rs1042127
rs1042127
2 0.925 0.120 6 31116393 missense variant A/C snv 0.21 0.17 0.700 1.000 1 2009 2009
dbSNP: rs1265048
rs1265048
1 1.000 0.120 6 31113632 upstream gene variant T/C snv 0.35 0.700 1.000 1 2007 2007
dbSNP: rs3815087
rs3815087
8 0.851 0.200 6 31125810 5 prime UTR variant G/A snv 0.25 0.700 1.000 1 2009 2009
dbSNP: rs3823418
rs3823418
8 0.925 0.120 6 31133165 intron variant G/A snv 0.23 0.700 1.000 1 2009 2009
dbSNP: rs527476195
rs527476195
6 0.925 0.120 6 31133165 intron variant G/A snv 0.700 1.000 1 2009 2009
dbSNP: rs6917517
rs6917517
1 1.000 0.120 6 31114584 upstream gene variant C/T snv 0.16 0.700 1.000 1 2009 2009
dbSNP: rs3130983
rs3130983
5 0.925 0.120 6 31117015 synonymous variant C/T snv 0.57 0.58 0.010 1.000 1 2013 2013
dbSNP: rs3778638
rs3778638
1 1.000 0.120 6 31124347 intron variant G/A snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs4959053
rs4959053
2 0.925 0.280 6 31131800 intron variant G/A snv 6.3E-02 0.010 1.000 1 2013 2013