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: rs1064792875
rs1064792875
1 1.000 22 50525908 stop gained C/T snv 0.700 0
dbSNP: rs1471478620
rs1471478620
1 1.000 22 50525910 frameshift variant -/G delins 0.700 0
dbSNP: rs1556486107
rs1556486107
1 1.000 22 50525898 frameshift variant -/C delins 0.700 0
dbSNP: rs1556488264
rs1556488264
4 0.925 0.120 22 50527165 inframe deletion AGC/- delins 0.700 0
dbSNP: rs761665644
rs761665644
4 0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06 0.700 0
dbSNP: rs786205097
rs786205097
1 1.000 22 50525808 frameshift variant -/G delins 0.700 0
dbSNP: rs149977726
rs149977726
1 1.000 22 50527265 missense variant T/C snv 1.2E-05 9.8E-05 0.800 1.000 1 1999 2002
dbSNP: rs1060499532
rs1060499532
1 1.000 22 50526338 missense variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1060499533
rs1060499533
1 1.000 22 50526293 missense variant A/G snv 0.700 1.000 1 2003 2003
dbSNP: rs1060499534
rs1060499534
1 1.000 22 50526246 missense variant C/T snv 7.1E-06 0.700 1.000 1 2011 2011
dbSNP: rs1060499535
rs1060499535
1 1.000 22 50526317 frameshift variant C/- delins 0.700 1.000 1 2009 2009
dbSNP: rs1064792865
rs1064792865
1 1.000 22 50527716 start lost A/C snv 0.700 1.000 1 2000 2000
dbSNP: rs1064792866
rs1064792866
1 1.000 22 50527704 missense variant A/G snv 0.700 1.000 1 2004 2004
dbSNP: rs1064792867
rs1064792867
1 1.000 22 50527611 missense variant A/C snv 0.700 1.000 1 2011 2011
dbSNP: rs1064792868
rs1064792868
1 1.000 22 50527223 missense variant A/G snv 0.700 1.000 1 2005 2005
dbSNP: rs1064792869
rs1064792869
1 1.000 22 50527215 missense variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs1064792870
rs1064792870
1 1.000 22 50527170 missense variant T/G snv 7.0E-06 0.700 1.000 1 2004 2004
dbSNP: rs1064792871
rs1064792871
1 1.000 22 50526657 missense variant G/C snv 0.700 1.000 1 2004 2004
dbSNP: rs1064792872
rs1064792872
1 1.000 22 50526611 missense variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs1064792873
rs1064792873
1 1.000 22 50526141 missense variant C/T snv 0.700 1.000 1 2005 2005
dbSNP: rs1064792874
rs1064792874
1 1.000 22 50526019 missense variant C/T snv 0.700 1.000 1 2004 2004
dbSNP: rs1064792876
rs1064792876
1 1.000 22 50526575 splice donor variant C/G;T snv 0.700 1.000 1 2005 2005
dbSNP: rs1064792877
rs1064792877
1 1.000 22 50526143 splice acceptor variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs1064792878
rs1064792878
1 1.000 22 50526000 splice donor variant C/T snv 7.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs1064792879
rs1064792879
1 1.000 22 50525999 splice donor variant A/G;T snv 0.700 1.000 1 2003 2003