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: 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: 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: rs1396840386
rs1396840386
MKKS
1.000 0.120 20 10407653 missense variant C/A snv 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2000 2000
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: 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: rs1568666460
rs1568666460
MKKS
1.000 0.120 20 10413023 stop gained A/T snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs113994195
rs113994195
MKKS
1.000 0.120 20 10413074 frameshift variant ACTACTAAAGT/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs1297985227
rs1297985227
MKKS
0.925 0.120 20 10413220 missense variant A/G snv 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 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: 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: rs111033571
rs111033571
TRIM32 ; ASTN2
0.925 0.120 9 116698130 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
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: rs111033570
rs111033570
TRIM32 ; ASTN2
0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 4 2002 2013
dbSNP: rs863224529
rs863224529
BBS7
1.000 0.120 4 121828172 frameshift variant TGC/A delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs1560638613
rs1560638613
BBS7
1.000 0.120 4 121828618 splice donor variant C/A snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2003 2003
dbSNP: rs991365297
rs991365297
BBS7
1.000 0.120 4 121835242 stop gained A/G;T snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
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: rs1560658189
rs1560658189
BBS7
1.000 0.120 4 121853042 stop gained T/A snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2003 2003
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: rs119466002
rs119466002
BBS7
0.882 0.120 4 121854790 missense variant G/A snv 8.0E-06 6.3E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 5 2003 2013
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: rs863224530
rs863224530
BBS7
0.925 0.120 4 121859130 frameshift variant GT/- del
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs565073445
rs565073445
BBS12
1.000 0.120 4 122741957 missense variant T/C snv 1.2E-05 1.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs1381368546
rs1381368546
BBS12
1.000 0.120 4 122741996 stop gained C/A snv 1.2E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs1397714772
rs1397714772
BBS12
0.925 0.120 4 122742155 frameshift variant TT/- delins 1.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0