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 0.060 0.833 6 2007 2016
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.060 0.833 6 2007 2016
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.060 0.833 6 2007 2016
dbSNP: rs1457582183
rs1457582183
5 0.827 0.200 17 7673608 missense variant G/A;C snv 7.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs372201428
rs372201428
3 0.882 0.120 17 7676181 missense variant G/A;C snv 1.2E-05 0.010 < 0.001 1 2013 2013
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