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: rs1565291081
rs1565291081
BBS1 ; ZDHHC24
1 1.000 0.120 11 66531741 missense variant A/G snv 0.700 1.000 1 2019 2019
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: rs1567412639
rs1567412639
BBS4
1 1.000 0.120 15 72712241 splice region variant C/G snv 0.700 1.000 1 2019 2019
dbSNP: rs1567427651
rs1567427651
BBS4
1 1.000 0.120 15 72729630 frameshift variant G/- del 0.700 1.000 1 2019 2019
dbSNP: rs1568662687
rs1568662687
MKKS
1 1.000 0.120 20 10405482 frameshift variant A/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1568666460
rs1568666460
MKKS
1 1.000 0.120 20 10413023 stop gained A/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1569077441
rs1569077441
IFT27
1 1.000 0.120 22 36767790 missense variant T/C snv 0.700 1.000 1 2019 2019
dbSNP: rs370916293
rs370916293
BBS9
1 1.000 0.120 7 33152855 stop lost A/C;G snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs565073445
rs565073445
BBS12
1 1.000 0.120 4 122741957 missense variant T/C snv 1.2E-05 1.4E-05 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: rs74315397
rs74315397
MKKS
2 0.925 0.120 20 10412723 stop gained A/C;G;T snv 4.0E-05 0.700 1.000 1 2019 2019
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 1 2019 2019
dbSNP: rs767068756
rs767068756
BBS12
1 1.000 0.120 4 122742947 missense variant A/C;G snv 4.8E-05 0.700 1.000 1 2019 2019
dbSNP: rs767373822
rs767373822
BBS2
2 0.925 0.120 16 56510871 missense variant A/G;T snv 1.2E-05 0.700 1.000 1 2019 2019
dbSNP: rs780659194
rs780659194
IFT27 ; LOC105373021
1 1.000 0.120 22 36763918 splice donor variant C/A;T snv 8.7E-05 1.4E-05 0.700 1.000 1 2019 2019
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: rs863224530
rs863224530
BBS7
2 0.925 0.120 4 121859130 frameshift variant GT/- del 0.700 1.000 1 2019 2019
dbSNP: rs1553794304
rs1553794304
PIGX ; CEP19
6 0.851 0.160 3 196707860 stop gained -/T delins 0.700 1.000 1 2018 2018
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: rs1273181642
rs1273181642
BBS2
2 0.925 0.120 16 56510004 stop gained G/A snv 8.0E-06 7.0E-06 0.700 1.000 3 2006 2017
dbSNP: rs786204701
rs786204701
BBS1 ; ZDHHC24
1 1.000 0.120 11 66526138 frameshift variant CTTTG/- delins 0.700 1.000 3 2003 2017
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: rs1156913215
rs1156913215
BBS10
2 0.925 0.120 12 76347219 stop gained G/A;C snv 0.700 1.000 4 2010 2016
dbSNP: rs1565809597
rs1565809597
BBS10
1 1.000 0.120 12 76346530 frameshift variant TTTG/- delins 0.700 1.000 4 2010 2016