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: rs886039484
rs886039484
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs587782705
rs587782705
8 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs1625895
rs1625895
13 0.752 0.200 17 7674797 non coding transcript exon variant T/A;C;G snv 9.1E-06; 0.86; 4.5E-06 0.020 1.000 2 2007 2007
dbSNP: rs2909430
rs2909430
5 0.827 0.200 17 7675327 5 prime UTR variant C/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs9895829
rs9895829
6 0.807 0.080 17 7675361 5 prime UTR variant A/G snv 7.4E-02 0.010 1.000 1 2007 2007
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
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.875 16 2000 2018
dbSNP: rs1131691022
rs1131691022
6 0.827 0.160 17 7670685 frameshift variant GG/A;G delins 0.010 1.000 1 2013 2013
dbSNP: rs1321845532
rs1321845532
4 0.851 0.160 17 7670685 frameshift variant GG/A;G delins 0.010 1.000 1 2013 2013