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: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.070 1.000 7 2006 2018
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 1.000 7 2006 2018
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.070 1.000 7 2006 2018
dbSNP: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2013 2019
dbSNP: rs1057519975
rs1057519975
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1057523347
rs1057523347
2 0.925 0.160 17 7673789 stop gained A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1060501205
rs1060501205
5 0.827 0.120 17 7673749 missense variant TG/GT mnv 0.010 1.000 1 2011 2011
dbSNP: rs12947788
rs12947788
8 0.776 0.280 17 7674109 intron variant G/A snv 0.10 0.010 1.000 1 2013 2013
dbSNP: rs12951053
rs12951053
14 0.732 0.160 17 7674089 intron variant A/C snv 0.10 0.010 1.000 1 2013 2013
dbSNP: rs1457582183
rs1457582183
5 0.827 0.200 17 7673608 missense variant G/A;C snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1800372
rs1800372
15 0.752 0.240 17 7674892 synonymous variant T/A;C snv 1.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs201744589
rs201744589
6 0.882 0.240 17 7673728 stop gained C/A;G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs587782289
rs587782289
15 0.752 0.240 17 7674257 missense variant A/C;G;T snv 0.010 1.000 1 2010 2010