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 0.040 0.750 4 2007 2019
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2007 2009
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.020 1.000 2 2007 2012
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2007 2009
dbSNP: rs1060501205
rs1060501205
5 0.827 0.120 17 7673749 missense variant TG/GT mnv 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 2011 2011
dbSNP: rs12602273
rs12602273
4 0.851 0.080 17 7679695 intron variant C/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs12951053
rs12951053
14 0.732 0.160 17 7674089 intron variant A/C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs1642785
rs1642785
6 0.807 0.200 17 7676483 5 prime UTR variant G/A;C;T snv 1.2E-05; 0.67; 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs1800372
rs1800372
15 0.752 0.240 17 7674892 synonymous variant T/A;C snv 1.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs747342068
rs747342068
21 0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs764146326
rs764146326
25 0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs8064946
rs8064946
4 0.851 0.080 17 7685993 non coding transcript exon variant G/C snv 0.32 0.010 1.000 1 2015 2015
dbSNP: rs876660254
rs876660254
4 0.882 0.040 17 7674963 missense variant G/T snv 0.010 1.000 1 1999 1999
dbSNP: rs9895829
rs9895829
6 0.807 0.080 17 7675361 5 prime UTR variant A/G snv 7.4E-02 0.010 1.000 1 2015 2015