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: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.833 12 2006 2019
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.900 10 2006 2017
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.900 10 2006 2017
dbSNP: rs563378859
rs563378859
8 0.851 0.320 17 7675146 missense variant G/A snv 4.0E-06 2.1E-05 0.030 1.000 3 2008 2016
dbSNP: rs121912654
rs121912654
21 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.020 1.000 2 2013 2016
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.020 1.000 2 2010 2011
dbSNP: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2009 2016
dbSNP: rs770374782
rs770374782
6 0.851 0.160 17 7673752 missense variant G/A;C snv 1.2E-05 4.2E-05 0.020 1.000 2 2010 2018
dbSNP: rs121913343
rs121913343
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs137852789
rs137852789
3 0.925 0.080 17 7675152 missense variant C/G;T snv 4.0E-06 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs1453167097
rs1453167097
2 0.925 0.080 17 7675172 missense variant A/C snv 0.010 1.000 1 2013 2013
dbSNP: rs749817236
rs749817236
1 1.000 0.040 17 7669624 frameshift variant C/- delins 0.010 1.000 1 2012 2012
dbSNP: rs78378222
rs78378222
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.010 1.000 1 2013 2013