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: rs113624356
rs113624356
BBS1 ; ZDHHC24
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.810 1.000 13 2002 2014
dbSNP: rs549625604
rs549625604
BBS10
13 0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 0.700 0
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: rs386834180
rs386834180
TMEM67
8 0.776 0.360 8 93781725 missense variant T/C snv 2.0E-05 4.2E-05 0.700 0
dbSNP: rs74315396
rs74315396
MKKS
5 0.827 0.240 20 10413405 missense variant T/C snv 6.8E-05 1.1E-04 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: rs606231137
rs606231137
BBS9
3 0.882 0.120 7 33383752 frameshift variant AACA/- delins 0.700 0
dbSNP: rs727503818
rs727503818
BBS10
3 0.882 0.120 12 76346894 frameshift variant T/- delins 6.8E-05 4.9E-05 0.700 0
dbSNP: rs376894444
rs376894444
BBS1
2 0.925 0.120 11 66515586 missense variant G/A snv 2.8E-05 2.8E-05 0.800 1.000 13 2002 2015
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: rs746875134
rs746875134
BBS1 ; ZDHHC24
2 0.925 0.120 11 66523577 splice donor variant G/A;C snv 8.0E-06; 4.0E-06 0.700 1.000 2 2003 2012
dbSNP: rs1057516533
rs1057516533
BBS1 ; ZDHHC24
2 0.925 0.120 11 66523842 frameshift variant T/- delins 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: rs1060503690
rs1060503690
BBS1 ; ZDHHC24
2 0.925 0.120 11 66526708 stop gained G/T snv 0.700 0
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: rs1166022838
rs1166022838
BBS1
2 0.925 0.120 11 66510675 frameshift variant -/C delins 4.0E-06 0.700 0
dbSNP: rs121917777
rs121917777
BBS1 ; ZDHHC24
2 0.925 0.120 11 66531692 stop gained G/A;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs138410949
rs138410949
KIF7
2 0.925 0.120 15 89631625 missense variant T/C snv 1.6E-03 2.0E-03 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: rs587777829
rs587777829
BBS1
2 0.925 0.120 11 66514679 splice donor variant G/A snv 0.700 0
dbSNP: rs587777830
rs587777830
BBS1 ; ZDHHC24
2 0.925 0.120 11 66523476 frameshift variant A/- del 0.700 0
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