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: rs1313590454
rs1313590454
BBS1
1 1.000 0.120 11 66511236 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs549625604
rs549625604
BBS10
13 0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 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: rs1555046611
rs1555046611
BBS1
1 1.000 0.120 11 66514590 frameshift variant -/T delins 0.700 1.000 1 2017 2017
dbSNP: rs1555050268
rs1555050268
BBS1 ; ZDHHC24
1 1.000 0.120 11 66531003 frameshift variant -/T delins 0.700 0
dbSNP: rs773632109
rs773632109
BBS1 ; ZDHHC24
1 1.000 0.120 11 66531689 frameshift variant -/T delins 0.700 0
dbSNP: rs1555049933
rs1555049933
BBS1 ; ZDHHC24
1 1.000 0.120 11 66529870 frameshift variant -/TGCC delins 0.700 0
dbSNP: rs749435317
rs749435317
TMEM67
3 0.882 0.280 8 93786287 frameshift variant A/- del 0.700 1.000 1 2006 2006
dbSNP: rs587777830
rs587777830
BBS1 ; ZDHHC24
2 0.925 0.120 11 66523476 frameshift variant A/- del 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: rs1306821707
rs1306821707
BBS1
1 1.000 0.120 11 66510660 start lost A/C;G;T snv 4.0E-06 0.700 0
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: rs1057516502
rs1057516502
BBS1
1 1.000 0.120 11 66515859 splice acceptor variant A/G snv 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: rs1460517643
rs1460517643
BBS10
2 0.925 0.120 12 76348195 missense variant A/G snv 2.1E-05 0.700 0
dbSNP: rs1555046748
rs1555046748
BBS1
1 1.000 0.120 11 66515538 splice acceptor variant A/G 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: rs606231137
rs606231137
BBS9
3 0.882 0.120 7 33383752 frameshift variant AACA/- delins 0.700 0
dbSNP: rs1555050404
rs1555050404
BBS1 ; ZDHHC24
1 1.000 0.120 11 66531685 frameshift variant C/- delins 0.700 1.000 2 2003 2017
dbSNP: rs1057516371
rs1057516371
BBS1 ; ZDHHC24
1 1.000 0.120 11 66523751 frameshift variant C/- 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: rs1057516427
rs1057516427
BBS1 ; ZDHHC24
1 1.000 0.120 11 66523480 stop gained C/A snv 0.700 0
dbSNP: rs768443448
rs768443448
BBS1 ; ZDHHC24
2 0.925 0.120 11 66526753 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.700 1.000 5 2003 2011
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