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: rs549625604
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 5 2006 2019
dbSNP: rs1339432710
rs1339432710
BBS12
1.000 0.120 4 122742561 frameshift variant -/A delins 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs1565287921
rs1565287921
BBS1 ; ZDHHC24
1.000 0.120 11 66526749 frameshift variant -/C delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2002 2002
dbSNP: rs1166022838
rs1166022838
BBS1
0.925 0.120 11 66510675 frameshift variant -/C delins 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs1555202695
rs1555202695
BBS10
1.000 0.120 12 76347338 frameshift variant -/C delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs113994196
rs113994196
MKKS
1.000 0.120 20 10412638 frameshift variant -/CAGG delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs1553794304
rs1553794304
PIGX ; CEP19
0.851 0.160 3 196707860 stop gained -/T delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2018 2018
dbSNP: rs1565809478
rs1565809478
BBS10
1.000 0.120 12 76346308 stop gained -/T delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2010 2010
dbSNP: rs770872200
rs770872200
BBS12
0.925 0.120 4 122742574 frameshift variant -/T ins 1.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs886039798
rs886039798
BBS1 ; ZDHHC24
0.925 0.120 11 66529902 frameshift variant -/T delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs1553933472
rs1553933472
BBS7
1.000 0.120 4 121855547 frameshift variant -/TT ins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs1306231185
rs1306231185
MKKS
0.925 0.120 20 10407645 stop gained -/TTCA delins 4.0E-06 7.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs587777830
rs587777830
BBS1 ; ZDHHC24
0.925 0.120 11 66523476 frameshift variant A/- del
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 3 2002 2015
dbSNP: rs1272140892
rs1272140892
BBS5
1.000 0.120 2 169482312 frameshift variant A/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs1568662687
rs1568662687
MKKS
1.000 0.120 20 10405482 frameshift variant A/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs759376012
rs759376012
TRIM32 ; ASTN2
1.000 0.120 9 116698849 frameshift variant A/- delins 1.6E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2013 2013
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: rs193922711
rs193922711
BBS2
0.925 0.120 16 56497770 frameshift variant A/- delins 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs761101213
rs761101213
BBS10
0.925 0.120 12 76347298 frameshift variant A/- del 2.0E-05 2.1E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs1340165752
rs1340165752
BBS10
1.000 0.120 12 76346842 stop gained A/C snv 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs121908174
rs121908174
BBS2
0.925 0.120 16 56514574 missense variant A/C snv 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs515726134
rs515726134
PDCD4 ; BBIP1
0.925 0.120 10 110900466 stop gained A/C snv 7.2E-06 1.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.710 1.000 0 2014 2014
dbSNP: rs886039797
rs886039797
BBS2
0.807 0.280 16 56502807 missense variant A/C snv 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs370916293
rs370916293
BBS9
1.000 0.120 7 33152855 stop lost A/C;G snv 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
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