Source: ALL
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: rs121917778
rs121917778
BBS1 ; ZDHHC24
1 1.000 0.120 11 66530973 missense variant T/C snv 1.2E-05 7.0E-06 0.700 1.000 8 2002 2011
dbSNP: rs200688985
rs200688985
BBS1
1 1.000 0.120 11 66515549 missense variant G/A snv 2.9E-04 7.0E-05 0.700 1.000 8 2002 2011
dbSNP: rs35520756
rs35520756
BBS1
1 1.000 0.120 11 66519725 missense variant G/A snv 7.7E-03 3.1E-02 0.700 1.000 8 2002 2011
dbSNP: rs775990952
rs775990952
BBS1
1 1.000 0.120 11 66511069 missense variant A/G snv 8.0E-06 0.700 1.000 8 2002 2011
dbSNP: rs778225393
rs778225393
BBS1 ; ZDHHC24
1 1.000 0.120 11 66530928 missense variant T/A snv 8.0E-06 0.700 1.000 8 2002 2011
dbSNP: rs1014835928
rs1014835928
BBS1 ; ZDHHC24
1 1.000 0.120 11 66526786 stop gained C/T snv 8.0E-06 0.700 1.000 2 2003 2003
dbSNP: rs1057516449
rs1057516449
BBS1
1 1.000 0.120 11 66511090 splice donor variant G/A;C snv 0.700 1.000 2 2010 2012
dbSNP: rs1057516451
rs1057516451
BBS1
1 1.000 0.120 11 66514469 frameshift variant CT/- del 0.700 1.000 2 2003 2011
dbSNP: rs1057517143
rs1057517143
BBS1 ; ZDHHC24
1 1.000 0.120 11 66523496 stop gained C/T snv 0.700 1.000 2 2003 2014
dbSNP: rs1555050404
rs1555050404
BBS1 ; ZDHHC24
1 1.000 0.120 11 66531685 frameshift variant C/- delins 0.700 1.000 2 2003 2017
dbSNP: rs1057516933
rs1057516933
BBS1
1 1.000 0.120 11 66515692 splice acceptor variant G/C snv 0.700 1.000 1 2011 2011
dbSNP: rs137905815
rs137905815
KIF7
1 1.000 0.120 15 89645894 missense variant T/C;G snv 6.8E-05; 2.4E-05 0.700 1.000 1 2011 2011
dbSNP: rs1555046611
rs1555046611
BBS1
1 1.000 0.120 11 66514590 frameshift variant -/T delins 0.700 1.000 1 2017 2017
dbSNP: rs753338844
rs753338844
MKKS
1 1.000 0.120 20 10413396 stop gained G/C snv 1.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs771517209
rs771517209
BBS1
1 1.000 0.120 11 66515732 splice donor variant G/A snv 8.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs869025204
rs869025204
BBS1
1 1.000 0.120 11 66511010 splice region variant C/G;T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs869025205
rs869025205
BBS1 ; ZDHHC24
1 1.000 0.120 11 66523784 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1057516330
rs1057516330
BBS1 ; ZDHHC24
1 1.000 0.120 11 66521331 frameshift variant G/- delins 0.700 0
dbSNP: rs1057516371
rs1057516371
BBS1 ; ZDHHC24
1 1.000 0.120 11 66523751 frameshift variant C/- delins 0.700 0
dbSNP: rs1057516427
rs1057516427
BBS1 ; ZDHHC24
1 1.000 0.120 11 66523480 stop gained C/A snv 0.700 0
dbSNP: rs1057516502
rs1057516502
BBS1
1 1.000 0.120 11 66515859 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1057516507
rs1057516507
BBS1
1 1.000 0.120 11 66511241 splice donor variant T/A snv 0.700 0
dbSNP: rs1057516661
rs1057516661
BBS1 ; ZDHHC24
1 1.000 0.120 11 66523723 splice acceptor variant G/A;C snv 1.4E-05 0.700 0
dbSNP: rs1057516901
rs1057516901
BBS1 ; ZDHHC24
1 1.000 0.120 11 66529901 frameshift variant C/- delins 0.700 0
dbSNP: rs1057517007
rs1057517007
BBS1
1 1.000 0.120 11 66514426 frameshift variant C/- delins 7.0E-06 0.700 0