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: rs113624356
rs113624356
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: rs121908581
rs121908581
0.925 0.120 2 169487811 missense variant G/A snv 7.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.710 1.000 1 2019 2019
dbSNP: rs515726134
rs515726134
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: rs786204671
rs786204671
0.925 0.120 12 76347254 frameshift variant TTCT/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.700 1.000 10 2006 2019
dbSNP: rs138043021
rs138043021
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: rs121908179
rs121908179
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: rs121917777
rs121917777
0.925 0.120 11 66531692 stop gained G/A;T snv 4.0E-06; 1.6E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.700 1.000 7 2002 2012
dbSNP: rs148374859
rs148374859
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
dbSNP: rs775950661
rs775950661
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: rs786204444
rs786204444
1.000 0.120 11 66515543 stop gained C/T snv 8.0E-06 1.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.700 1.000 7 2003 2019
dbSNP: rs375413604
rs375413604
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: rs119466002
rs119466002
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: rs121908176
rs121908176
0.925 0.120 16 56514623 stop gained G/A snv 2.0E-05 1.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.700 1.000 5 2001 2015
dbSNP: rs121908177
rs121908177
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: rs549625604
rs549625604
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: rs727503818
rs727503818
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: rs768443448
rs768443448
0.925 0.120 11 66526753 stop gained C/G;T snv 4.0E-06; 1.2E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.700 1.000 5 2003 2011
dbSNP: rs111033570
rs111033570
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: rs1156913215
rs1156913215
0.925 0.120 12 76347219 stop gained G/A;C snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.700 1.000 4 2010 2016
dbSNP: rs1555202584
rs1555202584
0.925 0.120 12 76346308 frameshift variant G/- del
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.700 1.000 4 2010 2014
dbSNP: rs1565809597
rs1565809597
1.000 0.120 12 76346530 frameshift variant TTTG/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.700 1.000 4 2010 2016
dbSNP: rs1565809867
rs1565809867
1.000 0.120 12 76346986 stop gained A/T snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.700 1.000 4 1966 2016
dbSNP: rs587777803
rs587777803
0.925 0.120 4 122743006 frameshift variant TT/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.700 1.000 4 2007 2019
dbSNP: rs768933093
rs768933093
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: rs780059308
rs780059308
0.925 0.120 12 76347073 frameshift variant GACT/- delins 1.6E-05 2.8E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.700 1.000 4 2010 2016