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 0.100 0.867 15 2006 2018
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.933 15 2006 2018
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.933 15 2006 2018
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: rs1800371
rs1800371
15 0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03 0.010 1.000 1 2010 2010
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs587780071
rs587780071
15 0.732 0.240 17 7674951 missense variant G/A snv 0.010 1.000 1 2013 2013