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: rs2277596
rs2277596
BBS4
1.000 0.120 15 72736927 missense variant A/G;T snv 6.7E-04; 4.0E-06
CUI: C2936864
Disease: Bardet-Biedl syndrome 4 (disorder)
Bardet-Biedl syndrome 4 (disorder) 		0.800 1.000 2 2003 2010
dbSNP: rs28938468
rs28938468
BBS4
1.000 0.120 15 72735167 missense variant C/A;G snv 4.0E-06
CUI: C2936864
Disease: Bardet-Biedl syndrome 4 (disorder)
Bardet-Biedl syndrome 4 (disorder) 		0.800 1.000 0 2001 2005
dbSNP: rs377031435
rs377031435
BBS4
1.000 0.120 15 72731304 splice acceptor variant G/A snv 1.6E-05 2.8E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 2 2001 2016
dbSNP: rs886041464
rs886041464
BBS4
1.000 0.120 15 72735184 splice donor variant T/A snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 2 2001 2019
dbSNP: rs113994191
rs113994191
BBS4
0.925 0.120 15 72722792 splice acceptor variant A/C;G snv
CUI: C2936864
Disease: Bardet-Biedl syndrome 4 (disorder)
Bardet-Biedl syndrome 4 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs1465437164
rs1465437164
BBS4
1.000 0.120 15 72695229 splice donor variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs1567412639
rs1567412639
BBS4
1.000 0.120 15 72712241 splice region variant C/G snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs1567427651
rs1567427651
BBS4
1.000 0.120 15 72729630 frameshift variant G/- del
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs749017489
rs749017489
BBS4
1.000 0.120 15 72731423 missense variant G/T snv 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2014 2014
dbSNP: rs750258633
rs750258633
BBS4
1.000 0.120 15 72716783 frameshift variant T/- delins 1.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs1060503692
rs1060503692
BBS4
1.000 0.120 15 72727990 stop gained T/A snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs113994189
rs113994189
BBS4
0.925 0.120 15 72709480 intron variant A/- delins
CUI: C2936864
Disease: Bardet-Biedl syndrome 4 (disorder)
Bardet-Biedl syndrome 4 (disorder) 		0.700 0
dbSNP: rs113994189
rs113994189
BBS4
0.925 0.120 15 72709480 intron variant A/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs113994190
rs113994190
BBS4
1.000 0.120 15 72712308 splice donor variant G/A;C snv 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs113994191
rs113994191
BBS4
0.925 0.120 15 72722792 splice acceptor variant A/C;G snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs113994192
rs113994192
BBS4
0.925 0.120 15 72712242 splice acceptor variant A/G snv 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs113994192
rs113994192
BBS4
0.925 0.120 15 72712242 splice acceptor variant A/G snv 4.0E-06
CUI: C2936864
Disease: Bardet-Biedl syndrome 4 (disorder)
Bardet-Biedl syndrome 4 (disorder) 		0.700 0
dbSNP: rs121434632
rs121434632
BBS4
0.925 0.120 15 72731574 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C2936864
Disease: Bardet-Biedl syndrome 4 (disorder)
Bardet-Biedl syndrome 4 (disorder) 		0.700 0
dbSNP: rs121434632
rs121434632
BBS4
0.925 0.120 15 72731574 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
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: rs770891152
rs770891152
BBS4
1.000 0.120 15 72731650 stop gained T/A;C snv 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs775710800
rs775710800
BBS4
1.000 0.120 15 72731573 stop gained C/T snv 8.0E-06
CUI: C2936864
Disease: Bardet-Biedl syndrome 4 (disorder)
Bardet-Biedl syndrome 4 (disorder) 		0.700 0
dbSNP: rs886039800
rs886039800
BBS4
0.851 0.240 15 72735944 frameshift variant G/- del
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 0
dbSNP: rs886039800
rs886039800
BBS4
0.851 0.240 15 72735944 frameshift variant G/- del
CUI: C0332154
Disease: Received therapy or drug for
Received therapy or drug for 		0.700 0
dbSNP: rs886039800
rs886039800
BBS4
0.851 0.240 15 72735944 frameshift variant G/- del
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0