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: rs1306821707
rs1306821707
BBS1
1 1.000 0.120 11 66510660 start lost A/C;G;T snv 4.0E-06 0.700 0
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: rs113994179
rs113994179
BBS1 ; ZDHHC24
2 0.925 0.120 11 66523453 splice region variant C/G;T snv 4.0E-06; 4.0E-06 0.700 0
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: rs1057516502
rs1057516502
BBS1
1 1.000 0.120 11 66515859 splice acceptor variant A/G 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: rs1057517332
rs1057517332
BBS1 ; ZDHHC24
2 0.925 0.120 11 66523454 splice acceptor variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1555046748
rs1555046748
BBS1
1 1.000 0.120 11 66515538 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555049893
rs1555049893
BBS1 ; ZDHHC24
1 1.000 0.120 11 66529818 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1555050394
rs1555050394
BBS1 ; ZDHHC24
1 1.000 0.120 11 66531654 splice acceptor variant A/T snv 0.700 0
dbSNP: rs748523268
rs748523268
BBS1 ; ZDHHC24
1 1.000 0.120 11 66521269 splice acceptor variant G/C snv 8.4E-05 2.8E-05 0.700 0
dbSNP: rs751753112
rs751753112
BBS1
1 1.000 0.120 11 66511012 splice acceptor variant G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs764245266
rs764245266
BBS1
1 1.000 0.120 11 66511011 splice acceptor variant A/C snv 8.0E-06 0.700 0
dbSNP: rs1057516451
rs1057516451
BBS1
1 1.000 0.120 11 66514469 frameshift variant CT/- del 0.700 1.000 2 2003 2011
dbSNP: rs1555050404
rs1555050404
BBS1 ; ZDHHC24
1 1.000 0.120 11 66531685 frameshift variant C/- delins 0.700 1.000 2 2003 2017
dbSNP: rs775769424
rs775769424
BBS1 ; ZDHHC24
11 0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 0.700 1.000 2 2011 2014
dbSNP: rs1555046611
rs1555046611
BBS1
1 1.000 0.120 11 66514590 frameshift variant -/T delins 0.700 1.000 1 2017 2017
dbSNP: rs749435317
rs749435317
TMEM67
3 0.882 0.280 8 93786287 frameshift variant A/- del 0.700 1.000 1 2006 2006
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: rs1057516533
rs1057516533
BBS1 ; ZDHHC24
2 0.925 0.120 11 66523842 frameshift variant T/- delins 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
dbSNP: rs1166022838
rs1166022838
BBS1
2 0.925 0.120 11 66510675 frameshift variant -/C delins 4.0E-06 0.700 0
dbSNP: rs1313590454
rs1313590454
BBS1
1 1.000 0.120 11 66511236 frameshift variant -/A delins 4.0E-06 0.700 0