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: rs79833450
rs79833450
2 1.000 0.160 9 34513165 missense variant G/A snv 2.0E-05 2.8E-05 0.800 1.000 1 2001 2001
dbSNP: rs147718607
rs147718607
3 0.925 0.160 19 48303953 missense variant C/T snv 2.4E-04 2.2E-04 0.700 1.000 2 2013 2013
dbSNP: rs200669099
rs200669099
2 1.000 0.160 9 34514468 stop gained G/A snv 3.6E-05 5.6E-05 0.700 1.000 2 2006 2011
dbSNP: rs397515363
rs397515363
2 1.000 0.160 9 34459054 splice donor variant -/T delins 0.700 1.000 2 1999 2013
dbSNP: rs587777779
rs587777779
3 0.882 0.160 19 11426182 stop gained C/A;T snv 0.700 1.000 2 2014 2014
dbSNP: rs760123202
rs760123202
2 0.925 0.160 8 132632763 frameshift variant C/- delins 1.8E-04 7.0E-06 0.700 1.000 2 2013 2014
dbSNP: rs137853191
rs137853191
1 1.000 0.160 14 49635127 stop gained G/A;C;T snv 3.7E-05; 6.1E-06 0.700 1.000 1 2008 2008
dbSNP: rs138320978
rs138320978
3 0.925 0.160 21 42493049 stop gained C/A;T snv 2.6E-04; 2.0E-05 0.700 1.000 1 2014 2014
dbSNP: rs138815960
rs138815960
3 0.925 0.160 3 50345533 splice donor variant A/C snv 2.7E-04 2.1E-04 0.700 1.000 1 2013 2013
dbSNP: rs151107532
rs151107532
3 0.925 0.160 21 42486463 splice acceptor variant T/G snv 3.7E-04 4.7E-04 0.700 1.000 1 2014 2014
dbSNP: rs201740530
rs201740530
3 0.882 0.160 8 100233436 stop gained C/T snv 8.7E-05 9.8E-05 0.700 1.000 1 2013 2013
dbSNP: rs267607227
rs267607227
3 0.925 0.160 16 84154748 missense variant T/C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs387907021
rs387907021
3 0.925 0.160 14 73689432 missense variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs397515339
rs397515339
2 0.925 0.160 16 84170172 frameshift variant -/C delins 0.700 1.000 1 2009 2009
dbSNP: rs397515341
rs397515341
2 0.925 0.160 14 49633935 frameshift variant -/CCACGCAGGTATCGTG delins 7.8E-06; 7.8E-06 2.8E-05 0.700 1.000 1 2008 2008
dbSNP: rs397515563
rs397515563
2 1.000 0.160 9 34517468 splice donor variant G/A snv 4.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs544674332
rs544674332
2 0.925 0.160 3 52353613 missense variant A/C snv 4.4E-06 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs587777047
rs587777047
2 0.925 0.160 10 27862453 missense variant A/C snv 0.700 1.000 1 2013 2013
dbSNP: rs587777059
rs587777059
2 0.925 0.160 21 42485760 frameshift variant TACT/- delins 8.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs587777780
rs587777780
2 0.925 0.160 19 11422722 stop gained G/A;T snv 4.1E-06 0.700 1.000 1 2014 2014
dbSNP: rs771663107
rs771663107
4 0.882 0.160 5 13865675 stop gained G/A snv 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs797045146
rs797045146
1 1.000 0.160 14 49635119 frameshift variant C/- delins 0.700 1.000 1 2014 2014
dbSNP: rs797045147
rs797045147
1 1.000 0.160 6 116616786 frameshift variant -/C delins 0.700 1.000 1 2015 2015
dbSNP: rs797045149
rs797045149
1 1.000 0.160 8 100191455 frameshift variant AAGTA/- delins 0.700 1.000 1 2013 2013
dbSNP: rs869320683
rs869320683
3 0.925 0.160 6 116623002 splice region variant AAGT/- delins 2.7E-04 0.700 1.000 1 2013 2013