Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs79833450
rs79833450
0.923 0.143 9 34513165 missense variant G/A snp 2.0E-05
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.800 1 2001 2001
dbSNP: rs587777779
rs587777779
0.923 0.143 19 11426182 stop gained C/A,T snp
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.710 1.000 3 1993 2015
dbSNP: rs397515414
rs397515414
0.923 0.143 16 71137272 stop gained T/A snp
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.710 1.000 2 1993 2013
dbSNP: rs771663107
rs771663107
0.923 0.143 5 13865675 stop gained G/A snp
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.710 1.000 2 1993 2013
dbSNP: rs145457535
rs145457535
0.923 0.143 17 44902549 missense variant A/C snp 1.2E-03 1.3E-03
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.710 1.000 1 1993 2015
dbSNP: rs397515363
rs397515363
1.000 0.143 9 34459055 splice region variant T/TT in-del
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.700 5 1993 2013
dbSNP: rs147718607
rs147718607
0.923 0.143 19 48303953 missense variant C/T snp 2.4E-04 1.3E-04
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.700 3 1993 2013
dbSNP: rs760123202
rs760123202
0.923 0.143 8 132632763 frameshift variant AC/A in-del 1.8E-04
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.700 3 1993 2015
dbSNP: rs137853191
rs137853191
0.923 0.143 14 49635127 stop gained G/A,C,T snp 3.7E-05; 6.1E-06 3.2E-05
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.700 2 1993 2009
dbSNP: rs138320978
rs138320978
0.923 0.143 21 42493049 stop gained C/A,T snp 2.6E-04; 2.0E-05 6.4E-05
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.700 2 1993 2014
dbSNP: rs138815960
rs138815960
0.923 0.143 3 50345533 splice donor variant A/C snp 2.7E-04 6.4E-05
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.700 2 1993 2013
dbSNP: rs151107532
rs151107532
0.923 0.143 21 42486463 splice acceptor variant T/G snp 3.7E-04 2.2E-04
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.700 2 1993 2014
dbSNP: rs201740530
rs201740530
0.878 0.143 8 100233436 stop gained C/T snp 8.7E-05 1.3E-04
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.700 2 1993 2014
dbSNP: rs267607227
rs267607227
0.923 0.143 16 84154748 missense variant T/C,G snp
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.700 2 1993 2010
dbSNP: rs376252276
rs376252276
1.000 0.143 9 34513112 missense variant G/A,C,T snp 7.6E-05; 4.0E-06; 4.0E-06
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.700 2 1993 2006
dbSNP: rs387907021
rs387907021
0.923 0.143 14 73689432 missense variant A/G snp
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.700 2 1993 2011
dbSNP: rs387907151
rs387907151
0.923 0.143 19 55165904 missense variant A/G snp
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.700 2 1993 2012
dbSNP: rs387907152
rs387907152
0.923 0.143 19 55165427 stop gained G/A snp
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.700 2 1993 2012
dbSNP: rs397515339
rs397515339
0.923 0.143 16 84170177 frameshift variant C/CC in-del
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.700 2 1993 2010
dbSNP: rs397515340
rs397515340
0.923 0.143 6 43670919 inframe deletion AGAA/A in-del
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.700 2 1993 2009
dbSNP: rs397515341
rs397515341
0.923 0.143 14 49633935 frameshift variant A/AGCCACGCAGGTATCGT in-del 7.8E-06; 7.8E-06 6.4E-05
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.700 2 1993 2009
dbSNP: rs397515358
rs397515358
0.923 0.143 17 74286974 splice region variant T/G snp
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.700 2 1993 2009
dbSNP: rs397515395
rs397515395
0.923 0.143 19 55161684 frameshift variant C/CA in-del 7.3E-06; 7.3E-06
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.700 2 1993 2012
dbSNP: rs397515413
rs397515413
0.923 0.143 16 70988133 missense variant C/A snp
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.700 2 1993 2013
dbSNP: rs397515563
rs397515563
1.000 0.143 9 34517468 splice donor variant G/A snp 4.0E-06
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.700 2 1993 2006