Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201619500
rs201619500
MKS1
1.000 0.120 17 58207104 missense variant C/T snv 2.2E-03 2.3E-03
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.750 1.000 16 2002 2019
dbSNP: rs200865108
rs200865108
MKS1
1.000 0.120 17 58207143 missense variant A/G snv 4.2E-04 1.5E-03
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs121908177
rs121908177
BBS2
0.882 0.120 16 56502790 stop gained G/A snv 1.9E-04 9.8E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 5 2001 2011
dbSNP: rs367882912
rs367882912
BBS4
1.000 0.120 15 72724581 stop gained T/A;C snv 1.4E-04; 2.0E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs138043021
rs138043021
BBS2
0.851 0.120 16 56496982 missense variant C/G;T snv 1.2E-04; 2.0E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 9 2001 2015
dbSNP: rs773862084
rs773862084
BBS2
0.882 0.120 16 56510858 splice donor variant C/A snv 9.9E-05 3.5E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2001 2001
dbSNP: rs780659194
rs780659194
IFT27 ; LOC105373021
1.000 0.120 22 36763918 splice donor variant C/A;T snv 8.7E-05 1.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs747388658
rs747388658
BBS9
1.000 0.120 7 33155682 frameshift variant TT/-;T delins 7.3E-05; 8.1E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs727503818
rs727503818
BBS10
0.882 0.120 12 76346894 frameshift variant T/- delins 6.8E-05 4.9E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 5 2007 2019
dbSNP: rs74315396
rs74315396
MKKS
0.827 0.240 20 10413405 missense variant T/C snv 6.8E-05 1.1E-04
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 3 2000 2010
dbSNP: rs119103286
rs119103286
TTC8
0.851 0.280 14 88841196 missense variant G/A snv 6.4E-05 3.5E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs775950661
rs775950661
BBS10
0.925 0.120 12 76345865 frameshift variant CA/- delins 6.4E-05 3.5E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 7 2006 2016
dbSNP: rs121908175
rs121908175
BBS2
0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 3 2001 2010
dbSNP: rs760165634
rs760165634
BBS7
1.000 0.120 4 121854707 frameshift variant CTCT/- delins 5.2E-05 4.9E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 2 2009 2015
dbSNP: rs773139166
rs773139166
BBS7
1.000 0.120 4 121845671 stop gained TA/- delins 5.2E-05 4.9E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs768933093
rs768933093
BBS10
0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 4 2006 2015
dbSNP: rs767068756
rs767068756
BBS12
1.000 0.120 4 122742947 missense variant A/C;G snv 4.8E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs121908179
rs121908179
BBS2
0.827 0.120 16 56514487 missense variant T/G snv 4.4E-05 2.8E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 7 2001 2015
dbSNP: rs375413604
rs375413604
BBS10
0.925 0.120 12 76346308 stop gained G/A;C;T snv 2.0E-05; 4.0E-06; 4.0E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 6 2010 2017
dbSNP: rs74315397
rs74315397
MKKS
0.925 0.120 20 10412723 stop gained A/C;G;T snv 4.0E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs1054138918
rs1054138918
BBS5
0.925 0.120 2 169487068 splice acceptor variant G/C snv 4.0E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2004 2004
dbSNP: rs138011813
rs138011813
BBS12
0.925 0.120 4 122743394 missense variant C/T snv 3.6E-05 2.0E-04
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 3 2010 2019
dbSNP: rs567573386
rs567573386
BBS2
0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 3 2011 2016
dbSNP: rs148374859
rs148374859
BBS10
0.925 0.120 12 76347712 missense variant G/C snv 2.8E-05 4.2E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 7 2006 2019