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: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.020 1.000 2 2012 2017
dbSNP: rs1079597
rs1079597
5 0.827 0.080 11 113425564 intron variant C/T snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs1334465665
rs1334465665
1 1.000 0.080 11 113414400 missense variant C/T snv 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs4274224
rs4274224
1 1.000 0.080 11 113448730 intron variant G/A snv 0.49 0.010 1.000 1 2009 2009
dbSNP: rs4648317
rs4648317
1 1.000 0.080 11 113460810 intron variant G/A snv 0.17 0.010 1.000 1 2008 2008
dbSNP: rs4648318
rs4648318
2 1.000 0.080 11 113442667 intron variant T/C snv 0.33 0.010 1.000 1 2009 2009
dbSNP: rs6278
rs6278
2 1.000 0.080 11 113410002 3 prime UTR variant C/A snv 0.14 0.010 1.000 1 2009 2009
dbSNP: rs7131056
rs7131056
6 0.827 0.200 11 113459052 intron variant A/C snv 0.51 0.010 1.000 1 2009 2009