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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.862 58 2003 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.826 46 2003 2019
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.050 0.600 5 2007 2019
dbSNP: rs11030101
rs11030101
10 0.763 0.160 11 27659197 5 prime UTR variant A/T snv 0.36 0.040 1.000 4 2009 2018
dbSNP: rs7124442
rs7124442
9 0.827 0.160 11 27655494 3 prime UTR variant C/G;T snv 0.030 0.667 3 2010 2013
dbSNP: rs61888800
rs61888800
5 0.851 0.080 11 27700731 5 prime UTR variant G/T snv 0.19 0.020 1.000 2 2013 2018
dbSNP: rs1048220
rs1048220
1 1.000 0.040 11 27658191 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs10835210
rs10835210
4 0.882 0.040 11 27674363 intron variant C/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs12273539
rs12273539
2 0.925 0.120 11 27661764 intron variant C/T snv 0.12 0.010 1.000 1 2009 2009
dbSNP: rs1401635
rs1401635
4 0.925 0.040 11 27672444 intron variant C/G snv 0.73 0.010 1.000 1 2015 2015
dbSNP: rs1415125856
rs1415125856
7 0.827 0.120 11 27658550 splice region variant G/A snv 4.0E-06 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs2030324
rs2030324
6 0.827 0.120 11 27705368 intron variant A/G snv 0.49 0.010 1.000 1 2009 2009
dbSNP: rs988748
rs988748
3 0.882 0.120 11 27703198 intron variant C/G snv 0.83 0.010 1.000 1 2005 2005