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 2003 2017
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 1.000 7 2003 2017
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.070 1.000 7 2003 2017
dbSNP: rs121912651
rs121912651
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs28934575
rs28934575
37 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
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 2018 2018
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs397516436
rs397516436
34 0.641 0.440 17 7674894 stop gained G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs587782447
rs587782447
1 1.000 0.080 17 7676049 missense variant T/C;G snv 0.010 1.000 1 2003 2003
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 2012 2012
dbSNP: rs879253942
rs879253942
28 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2019 2019