Gene: BBS10 ×
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: rs786204671
rs786204671
BBS10
2 0.925 0.120 12 76347254 frameshift variant TTCT/- delins 0.700 1.000 10 2006 2019
dbSNP: rs148374859
rs148374859
BBS10
2 0.925 0.120 12 76347712 missense variant G/C snv 2.8E-05 4.2E-05 0.700 1.000 7 2006 2019
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 7 2006 2016
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 6 2010 2017
dbSNP: rs549625604
rs549625604
BBS10
13 0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 0.700 1.000 5 2006 2019
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 2019
dbSNP: rs1156913215
rs1156913215
BBS10
2 0.925 0.120 12 76347219 stop gained G/A;C snv 0.700 1.000 4 2010 2016
dbSNP: rs1555202584
rs1555202584
BBS10
2 0.925 0.120 12 76346308 frameshift variant G/- del 0.700 1.000 4 2010 2014
dbSNP: rs1565809597
rs1565809597
BBS10
1 1.000 0.120 12 76346530 frameshift variant TTTG/- delins 0.700 1.000 4 2010 2016
dbSNP: rs1565809867
rs1565809867
BBS10
1 1.000 0.120 12 76346986 stop gained A/T snv 0.700 1.000 4 1966 2016
dbSNP: rs768933093
rs768933093
BBS10
10 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 0.700 1.000 4 2006 2015
dbSNP: rs780059308
rs780059308
BBS10
2 0.925 0.120 12 76347073 frameshift variant GACT/- delins 1.6E-05 2.8E-05 0.700 1.000 4 2010 2016
dbSNP: rs1555202806
rs1555202806
BBS10
3 1.000 0.120 12 76348313 frameshift variant AACGCCGC/- delins 0.700 1.000 3 2006 2016
dbSNP: rs1340165752
rs1340165752
BBS10
1 1.000 0.120 12 76346842 stop gained A/C snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1565809478
rs1565809478
BBS10
1 1.000 0.120 12 76346308 stop gained -/T delins 0.700 1.000 1 2010 2010
dbSNP: rs1565809995
rs1565809995
BBS10
1 1.000 0.120 12 76347261 frameshift variant G/- del 0.700 1.000 1 2019 2019
dbSNP: rs1565810301
rs1565810301
BBS10
1 1.000 0.120 12 76347787 missense variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs587777837
rs587777837
BBS10
2 0.925 0.120 12 76346940 frameshift variant AA/- delins 0.700 1.000 1 2019 2019
dbSNP: rs771325212
rs771325212
BBS10
1 1.000 0.120 12 76347023 missense variant T/C snv 4.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs781421232
rs781421232
BBS10
1 1.000 0.120 12 76347424 inframe deletion GAT/- delins 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1060500996
rs1060500996
BBS10
1 1.000 0.120 12 76347724 frameshift variant ATAAA/- delins 0.700 0
dbSNP: rs1064796315
rs1064796315
BBS10
2 0.925 0.120 12 76345955 frameshift variant C/- delins 2.8E-05 0.700 0
dbSNP: rs1555202695
rs1555202695
BBS10
1 1.000 0.120 12 76347338 frameshift variant -/C delins 0.700 0
dbSNP: rs761101213
rs761101213
BBS10
2 0.925 0.120 12 76347298 frameshift variant A/- del 2.0E-05 2.1E-05 0.700 0
dbSNP: rs863224522
rs863224522
BBS10
2 0.925 0.120 12 76347454 stop gained G/T snv 0.700 0