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 0.889 45 2004 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.868 38 2004 2019
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.060 0.833 6 2005 2014
dbSNP: rs2030324
rs2030324
6 0.827 0.120 11 27705368 intron variant A/G snv 0.49 0.020 0.500 2 2014 2017
dbSNP: rs1048218
rs1048218
1 1.000 0.080 11 27658340 missense variant C/A snv 0.010 1.000 1 2008 2008
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 2013 2013
dbSNP: rs370102323
rs370102323
2 0.925 0.080 11 27658085 synonymous variant C/A;T snv 4.0E-06; 4.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs56164415
rs56164415
6 0.851 0.120 11 27700188 5 prime UTR variant G/A snv 5.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs756240390
rs756240390
1 1.000 0.080 11 27658370 synonymous variant G/A snv 4.0E-05 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs893924483
rs893924483
23 0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 0.010 1.000 1 2013 2013