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: rs12803321
rs12803321
2 1.000 0.040 11 118609400 intron variant G/C;T snv 0.700 1.000 3 2015 2018
dbSNP: rs494560
rs494560
1 1.000 0.040 11 118650844 non coding transcript exon variant A/G snv 0.57 0.710 1.000 2 2011 2012
dbSNP: rs11216930
rs11216930
2 1.000 0.040 11 118618067 intron variant A/C snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs2236661
rs2236661
1 1.000 0.040 11 118628678 intron variant C/G snv 0.24 0.20 0.010 1.000 1 2012 2012
dbSNP: rs17748
rs17748
5 0.827 0.080 11 118657714 3 prime UTR variant C/T snv 0.18 0.710 1.000 3 2009 2012
dbSNP: rs11603023
rs11603023
3 0.925 0.120 11 118615352 intron variant T/C snv 0.57 0.700 1.000 1 2011 2011
dbSNP: rs498872
rs498872
10 0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv 0.900 0.941 17 2009 2020