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: rs483352697
rs483352697
3 0.695 0.480 17 7674944 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs28934576
rs28934576
47 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.030 0.667 3 1993 2019
dbSNP: rs28934578
rs28934578
36 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.030 1.000 3 2011 2017
dbSNP: rs11540652
rs11540652
20 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.020 0.500 2 1993 2019
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.850 20 2000 2018
dbSNP: rs1131691014
rs1131691014
213 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.875 16 2000 2018
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.875 16 2000 2018