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: rs1131691003
rs1131691003
12 0.752 0.360 17 7676381 splice donor variant C/A;G snv 0.700 0
dbSNP: rs1131691042
rs1131691042
12 0.752 0.360 17 7675052 splice donor variant C/T snv 0.700 0
dbSNP: rs11540652
rs11540652
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs121912661
rs121912661
1 1.000 0.120 17 7676264 missense variant C/A;G snv 0.700 0
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs55832599
rs55832599
18 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
dbSNP: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.050 1.000 5 2004 2019
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2010 2011
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2011 2011
dbSNP: rs121912651
rs121912651
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2004 2008
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2011 2011
dbSNP: rs1131691021
rs1131691021
21 0.716 0.120 17 7675097 missense variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs121912666
rs121912666
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2004 2004
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 2004 2004
dbSNP: rs12947788
rs12947788
8 0.776 0.280 17 7674109 intron variant G/A snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs1555525012
rs1555525012
3 0.882 0.200 17 7673603 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs17884306
rs17884306
2 0.925 0.120 17 7668783 3 prime UTR variant C/T snv 5.1E-02 0.010 1.000 1 2015 2015