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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.750 32 2005 2018
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.080 0.875 8 2007 2018
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.030 0.667 3 2009 2011
dbSNP: rs10234411
rs10234411
1 1.000 0.040 7 87535576 intron variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs199516560
rs199516560
5 0.851 0.200 7 87600772 5 prime UTR variant G/A snv 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs3789243
rs3789243
14 0.776 0.120 7 87591570 intron variant A/G snv 0.50 0.010 < 0.001 1 2011 2011
dbSNP: rs6949448
rs6949448
1 1.000 0.040 7 87512498 intron variant T/C snv 0.63 0.010 < 0.001 1 2011 2011