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 0.789 19 2008 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.789 19 2008 2019
dbSNP: rs1243188371
rs1243188371
2 1.000 0.160 11 27674117 synonymous variant C/T snv 4.1E-06 7.0E-06 0.020 1.000 2 2012 2014
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2013 2016
dbSNP: rs11030119
rs11030119
3 11 27706555 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs7124442
rs7124442
9 0.827 0.160 11 27655494 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs759985000
rs759985000
2 11 27700987 5 prime UTR variant G/A;C snv 4.2E-06; 8.4E-06 0.010 1.000 1 2018 2018