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: rs768933093
rs768933093
BBS10
10 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 0.800 1.000 16 2006 2017
dbSNP: rs786204575
rs786204575
BBS10
1 1.000 0.120 12 76346744 missense variant A/G snv 4.0E-06 1.4E-05 0.800 1.000 14 2006 2017
dbSNP: rs137852837
rs137852837
BBS10
1 1.000 0.120 12 76347054 missense variant A/C snv 0.800 1.000 7 2006 2017
dbSNP: rs1460517643
rs1460517643
BBS10
2 0.925 0.120 12 76348195 missense variant A/G snv 2.1E-05 0.800 1.000 7 2006 2017
dbSNP: rs148374859
rs148374859
BBS10
2 0.925 0.120 12 76347712 missense variant G/C snv 2.8E-05 4.2E-05 0.800 1.000 7 2006 2017
dbSNP: rs137852836
rs137852836
BBS10
1 1.000 0.120 12 76348258 missense variant C/G snv 0.700 1.000 7 2006 2017
dbSNP: rs137852838
rs137852838
BBS10
1 1.000 0.120 12 76348327 missense variant A/C snv 0.700 1.000 7 2006 2017
dbSNP: rs141521925
rs141521925
BBS10
1 1.000 0.120 12 76346249 missense variant T/C snv 3.5E-04 1.6E-03 0.700 1.000 7 2006 2017
dbSNP: rs1447555059
rs1447555059
BBS10
1 1.000 0.120 12 76346755 missense variant A/C snv 4.0E-06 2.1E-05 0.700 1.000 7 2006 2017
dbSNP: rs1555202553
rs1555202553
BBS10
1 1.000 0.120 12 76345955 missense variant C/A snv 0.700 1.000 7 2006 2017
dbSNP: rs549625604
rs549625604
BBS10
13 0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 0.700 1.000 7 2006 2016
dbSNP: rs575957641
rs575957641
BBS10
1 1.000 0.120 12 76346147 missense variant T/C snv 3.2E-05 2.1E-05 0.700 1.000 7 2006 2017
dbSNP: rs756632517
rs756632517
BBS10
2 0.925 0.120 12 76347395 missense variant T/C snv 4.0E-06 0.700 1.000 7 2006 2017
dbSNP: rs759387000
rs759387000
BBS10
1 1.000 0.120 12 76345920 missense variant T/G snv 1.6E-05 0.700 1.000 7 2006 2017
dbSNP: rs780916348
rs780916348
BBS10
1 1.000 0.120 12 76347476 missense variant A/G snv 4.0E-06 0.700 1.000 7 2006 2017
dbSNP: rs761101213
rs761101213
BBS10
2 0.925 0.120 12 76347298 frameshift variant A/- del 2.0E-05 2.1E-05 0.700 1.000 6 2006 2017
dbSNP: rs375413604
rs375413604
BBS10
2 0.925 0.120 12 76346308 stop gained G/A;C;T snv 2.0E-05; 4.0E-06; 4.0E-05 0.700 1.000 5 2010 2017
dbSNP: rs727503818
rs727503818
BBS10
3 0.882 0.120 12 76346894 frameshift variant T/- delins 6.8E-05 4.9E-05 0.700 1.000 5 2007 2014
dbSNP: rs775950661
rs775950661
BBS10
2 0.925 0.120 12 76345865 frameshift variant CA/- delins 6.4E-05 3.5E-05 0.700 1.000 5 2006 2017
dbSNP: rs786204671
rs786204671
BBS10
2 0.925 0.120 12 76347254 frameshift variant TTCT/- delins 0.700 1.000 5 2006 2014
dbSNP: rs1356713858
rs1356713858
BBS10
1 1.000 0.120 12 76346578 stop gained A/C snv 7.0E-06 0.700 1.000 4 2011 2016
dbSNP: rs770556842
rs770556842
BBS10
1 1.000 0.120 12 76346383 frameshift variant TTAG/- delins 0.700 1.000 3 2010 2014
dbSNP: rs1555202584
rs1555202584
BBS10
2 0.925 0.120 12 76346308 frameshift variant G/- del 0.700 1.000 2 2006 2011
dbSNP: rs760642305
rs760642305
BBS10
1 1.000 0.120 12 76346741 frameshift variant T/- del 2.1E-05 0.700 1.000 2 2014 2016
dbSNP: rs786204573
rs786204573
BBS10
1 1.000 0.120 12 76346800 frameshift variant -/T delins 1.4E-05 0.700 1.000 2 2006 2011