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: rs1057519992
rs1057519992
14 0.742 0.400 17 7674890 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520004
rs1057520004
12 0.752 0.240 17 7674884 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519997
rs1057519997
9 0.776 0.320 17 7676037 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs371409680
rs371409680
10 0.790 0.120 17 7673772 missense variant C/G;T snv 4.0E-05 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1057519995
rs1057519995
9 0.807 0.240 17 7674200 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs35850753
rs35850753
8 0.807 0.080 17 7675353 5 prime UTR variant C/T snv 1.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs876659675
rs876659675
8 0.807 0.280 17 7674199 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs764803020
rs764803020
5 0.851 0.040 17 7673750 frameshift variant -/TTTCCGCCGG delins 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs781490101
rs781490101
5 0.851 0.040 17 7673748 missense variant T/C snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121912659
rs121912659
4 0.882 0.160 17 7673554 missense variant C/A;T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012