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: rs55819519
rs55819519
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2014 2014
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: rs587781858
rs587781858
12 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs587782144
rs587782144
8 0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs587782596
rs587782596
7 0.807 0.200 17 7675071 missense variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs587782646
rs587782646
2 0.925 0.080 17 7676576 missense variant C/G snv 4.0E-06 0.010 1.000 1 2008 2008
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: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2008 2008
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: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.833 48 2003 2020
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: rs1800372
rs1800372
15 0.752 0.240 17 7674892 synonymous variant T/A;C snv 1.3E-02 0.020 0.500 2 2014 2017
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: rs1288373809
rs1288373809
5 0.882 0.120 17 7673255 synonymous variant G/A snv 5.3E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs375874539
rs375874539
15 0.732 0.320 17 7674237 missense variant G/A;C snv 0.010 < 0.001 1 2008 2008
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: rs28934574
rs28934574
31 0.658 0.440 17 7673776 missense variant G/A;C 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: rs587782705
rs587782705
8 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs786201057
rs786201057
24 0.677 0.400 17 7675995 missense variant G/A;C;T snv 0.700 0