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: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.740 1.000 4 2017 2019
dbSNP: rs11540652
rs11540652
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.710 1.000 1 2018 2018
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: rs121912651
rs121912651
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 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: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.727 22 2006 2019
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.750 20 2006 2018
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.750 20 2006 2018
dbSNP: rs1800371
rs1800371
15 0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03 0.020 0.500 2 2010 2019
dbSNP: rs1064795841
rs1064795841
4 0.882 0.080 17 7674971 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1131691029
rs1131691029
6 0.827 0.160 17 7673794 missense variant C/G snv 0.010 1.000 1 2006 2006
dbSNP: rs12947788
rs12947788
8 0.776 0.280 17 7674109 intron variant G/A snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs1427471466
rs1427471466
1 1.000 0.080 17 7674183 frameshift variant G/- delins 0.010 1.000 1 2017 2017
dbSNP: rs28934575
rs28934575
37 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs587780071
rs587780071
15 0.732 0.240 17 7674951 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs746504075
rs746504075
1 1.000 0.080 17 7674290 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs879253942
rs879253942
28 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2002 2002