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 0.030 1.000 3 2010 2015
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2014 2014
dbSNP: rs121912651
rs121912651
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121912664
rs121912664
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs730882025
rs730882025
21 0.724 0.360 17 7674885 missense variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs863224683
rs863224683
4 17 7675224 missense variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2014 2014