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: 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: 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: rs1057517143
rs1057517143
BBS1 ; ZDHHC24
1 1.000 0.120 11 66523496 stop gained C/T snv 0.700 1.000 2 2003 2014
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: rs869025205
rs869025205
BBS1 ; ZDHHC24
1 1.000 0.120 11 66523784 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1057516427
rs1057516427
BBS1 ; ZDHHC24
1 1.000 0.120 11 66523480 stop gained C/A snv 0.700 0
dbSNP: rs1060503690
rs1060503690
BBS1 ; ZDHHC24
2 0.925 0.120 11 66526708 stop gained G/T snv 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: rs1555802009
rs1555802009
MKKS
1 1.000 0.120 20 10412902 stop gained T/A snv 0.700 0
dbSNP: rs1565289799
rs1565289799
BBS1 ; ZDHHC24
1 1.000 0.120 11 66529884 stop gained C/T snv 0.700 0
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: 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: 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: 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: 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: rs147191956
rs147191956
TICRR ; KIF7
1 1.000 0.120 15 89630403 missense variant G/A snv 4.2E-04 2.7E-04 0.700 0
dbSNP: rs1565286202
rs1565286202
BBS1 ; ZDHHC24
1 1.000 0.120 11 66523872 missense variant T/A snv 0.700 0
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: rs942862410
rs942862410
BBS1 ; ZDHHC24
1 1.000 0.120 11 66523538 missense variant G/A snv 4.0E-06 0.700 0