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: rs121913504
rs121913504
3 0.882 0.080 19 17837200 missense variant G/A snv 0.710 1.000 1 2006 2006
dbSNP: rs1057519770
rs1057519770
3 0.882 0.160 19 17843825 missense variant A/G snv 0.700 1.000 1 2008 2008
dbSNP: rs201283129
rs201283129
3 0.882 0.160 19 17838329 missense variant C/A;G snv 2.0E-05 0.700 1.000 1 2008 2008
dbSNP: rs758959409
rs758959409
3 0.882 0.160 19 17835160 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2008 2008
dbSNP: rs398124628
rs398124628
1 1.000 0.040 X 48791260 frameshift variant -/ACAGCCACCGCTGCAGCTGC delins 0.700 0
dbSNP: rs786201044
rs786201044
8 0.827 0.200 10 87933165 missense variant T/C snv 0.700 0
dbSNP: rs864309495
rs864309495
4 0.882 0.160 17 7674895 frameshift variant AA/-;A delins 0.700 0
dbSNP: rs373667881
rs373667881
5 0.827 0.160 8 125431222 missense variant G/A;T snv 1.1E-03 0.020 1.000 2 2012 2015
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2005 2006
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2000 2000
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2000 2000
dbSNP: rs121912656
rs121912656
28 0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs3212723
rs3212723
2 0.925 0.040 19 17843406 missense variant G/T snv 6.2E-03 2.6E-02 0.010 1.000 1 2006 2006
dbSNP: rs3213409
rs3213409
3 0.925 0.040 19 17834887 missense variant C/T snv 8.6E-03 7.3E-03 0.010 1.000 1 2006 2006
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2000 2000