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: rs144467873
rs144467873
9 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.700 1.000 14 1989 2017
dbSNP: rs5742904
rs5742904
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.700 1.000 11 1989 2013
dbSNP: rs771541567
rs771541567
4 0.851 0.120 2 21029900 missense variant G/A;T snv 8.0E-06; 2.0E-05 0.700 1.000 3 2003 2017
dbSNP: rs1215189537
rs1215189537
2 0.925 0.080 2 21007749 frameshift variant AAAGA/- delins 4.0E-06 0.700 1.000 2 2007 2012
dbSNP: rs368825685
rs368825685
2 0.925 0.080 2 21012365 stop gained A/C;G snv 4.0E-06; 1.2E-05 0.700 1.000 2 1993 2014
dbSNP: rs1558560212
rs1558560212
2 0.925 0.080 2 21004676 splice acceptor variant C/G snv 0.700 1.000 1 2010 2010
dbSNP: rs1558564161
rs1558564161
2 0.925 0.080 2 21010325 frameshift variant A/- delins 0.700 1.000 1 2012 2012
dbSNP: rs1057518647
rs1057518647
2 0.925 0.080 2 21019728 frameshift variant CCCGGTC/- delins 0.700 0
dbSNP: rs121918388
rs121918388
1 1.000 0.040 2 21010033 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs121918391
rs121918391
1 1.000 0.040 2 21015169 stop gained A/T snv 0.700 0
dbSNP: rs1399892057
rs1399892057
1 1.000 0.040 2 21028066 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1553383473
rs1553383473
2 0.925 0.080 2 21009263 stop gained G/T snv 0.700 0
dbSNP: rs1553383931
rs1553383931
1 1.000 0.040 2 21011751 frameshift variant -/T delins 0.700 0
dbSNP: rs1553384177
rs1553384177
2 0.925 0.040 2 21013287 stop gained G/C;T snv 0.700 0
dbSNP: rs766243954
rs766243954
2 0.925 0.080 2 21038086 stop gained C/A snv 7.0E-06 0.700 0
dbSNP: rs878853970
rs878853970
1 1.000 0.040 2 21028484 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs878853973
rs878853973
1 1.000 0.040 2 21007345 frameshift variant C/- del 0.700 0