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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.833 42 2003 2018
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.833 42 2003 2018
dbSNP: rs1064795369
rs1064795369
3 0.882 0.080 17 7673791 missense variant A/C;G snv 0.030 1.000 3 2003 2013
dbSNP: rs1057519975
rs1057519975
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.020 1.000 2 2014 2016
dbSNP: rs1057520001
rs1057520001
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.020 1.000 2 2010 2019
dbSNP: rs1131691036
rs1131691036
8 0.851 0.080 17 7675207 frameshift variant GCA/CC delins 0.020 1.000 2 2014 2016
dbSNP: rs1237722021
rs1237722021
2 0.925 0.080 17 7676194 missense variant C/A snv 7.0E-06 0.020 1.000 2 2008 2016
dbSNP: rs17849781
rs17849781
22 0.701 0.480 17 7673788 missense variant G/A;C;T snv 0.020 1.000 2 2004 2008
dbSNP: rs879253942
rs879253942
28 0.677 0.400 17 7673826 missense variant A/G snv 0.020 1.000 2 2005 2011
dbSNP: rs886039484
rs886039484
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.020 1.000 2 2010 2019
dbSNP: rs1057519981
rs1057519981
22 0.689 0.440 17 7674251 missense variant A/C;G;T snv 0.010 1.000 1 2003 2003
dbSNP: rs1057520006
rs1057520006
14 0.752 0.240 17 7673799 missense variant A/C;G;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs1457582183
rs1457582183
5 0.827 0.200 17 7673608 missense variant G/A;C snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs375874539
rs375874539
15 0.732 0.320 17 7674237 missense variant G/A;C snv 0.010 < 0.001 1 2008 2008
dbSNP: rs587780071
rs587780071
15 0.732 0.240 17 7674951 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs587781433
rs587781433
3 0.925 0.080 17 7674197 missense variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs587782596
rs587782596
7 0.807 0.200 17 7675071 missense variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs760043106
rs760043106
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.010 1.000 1 2016 2016
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 2018 2018
dbSNP: rs876660825
rs876660825
1 1.000 0.080 17 7674962 missense variant G/A;C snv 0.010 1.000 1 2017 2017
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: rs55832599
rs55832599
18 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
dbSNP: rs786201057
rs786201057
24 0.677 0.400 17 7675995 missense variant G/A;C;T snv 0.700 0
dbSNP: rs1159579789
rs1159579789
3 0.925 0.080 17 7673578 missense variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014