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: rs121908581
rs121908581
BBS5
0.925 0.120 2 169487811 missense variant G/A snv 7.0E-06
CUI: C3892039
Disease: BARDET-BIEDL SYNDROME 5
BARDET-BIEDL SYNDROME 5 		0.800 1.000 0 2004 2011
dbSNP: rs121908582
rs121908582
BBS5
1.000 2 169493765 missense variant A/G snv
CUI: C3892039
Disease: BARDET-BIEDL SYNDROME 5
BARDET-BIEDL SYNDROME 5 		0.800 1.000 0 2004 2011
dbSNP: rs121908581
rs121908581
BBS5
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: 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: 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: rs137853921
rs137853921
BBS5
1.000 0.040 2 169493769 missense variant A/G snv 4.2E-03 3.7E-03
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		0.700 1.000 1 2004 2004
dbSNP: rs1466289570
rs1466289570
BBS5
1.000 0.120 2 169503094 splice acceptor variant G/A;T snv 1.2E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2004 2004
dbSNP: rs1559121920
rs1559121920
BBS5
1.000 0.120 2 169487092 missense variant A/G snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs772757329
rs772757329
BBS5
1.000 0.120 2 169487993 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs1054138918
rs1054138918
BBS5
0.925 0.120 2 169487068 splice acceptor variant G/C snv 4.0E-05
CUI: C3892039
Disease: BARDET-BIEDL SYNDROME 5
BARDET-BIEDL SYNDROME 5 		0.700 0
dbSNP: rs1238632042
rs1238632042
BBS5
1.000 0.040 2 169492899 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		0.700 0
dbSNP: rs1477098739
rs1477098739
BBS5
1.000 2 169487804 splice acceptor variant A/G snv 1.2E-05 7.0E-06
CUI: C3892039
Disease: BARDET-BIEDL SYNDROME 5
BARDET-BIEDL SYNDROME 5 		0.700 0
dbSNP: rs1553529427
rs1553529427
BBS5
1.000 2 169504520 frameshift variant -/T delins
CUI: C3892039
Disease: BARDET-BIEDL SYNDROME 5
BARDET-BIEDL SYNDROME 5 		0.700 0
dbSNP: rs1559122157
rs1559122157
BBS5
1.000 2 169487857 splice donor variant T/C snv
CUI: C3892039
Disease: BARDET-BIEDL SYNDROME 5
BARDET-BIEDL SYNDROME 5 		0.700 0
dbSNP: rs1559122277
rs1559122277
BBS5
1.000 2 169488115 splice donor variant G/T snv
CUI: C3892039
Disease: BARDET-BIEDL SYNDROME 5
BARDET-BIEDL SYNDROME 5 		0.700 0
dbSNP: rs1559122277
rs1559122277
BBS5
1.000 2 169488115 splice donor variant G/T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs587777828
rs587777828
BBS5
1.000 2 169493012 splice region variant A/G snv
CUI: C3892039
Disease: BARDET-BIEDL SYNDROME 5
BARDET-BIEDL SYNDROME 5 		0.700 0
dbSNP: rs767221160
rs767221160
BBS5
1.000 2 169487103 stop gained G/A;T snv 1.2E-05; 4.0E-06
CUI: C3892039
Disease: BARDET-BIEDL SYNDROME 5
BARDET-BIEDL SYNDROME 5 		0.700 0
dbSNP: rs786205636
rs786205636
BBS5
0.827 0.320 2 169493750 missense variant G/A snv
CUI: C0332154
Disease: Received therapy or drug for
Received therapy or drug for 		0.700 0
dbSNP: rs786205636
rs786205636
BBS5
0.827 0.320 2 169493750 missense variant G/A snv
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 0
dbSNP: rs786205636
rs786205636
BBS5
0.827 0.320 2 169493750 missense variant G/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs786205636
rs786205636
BBS5
0.827 0.320 2 169493750 missense variant G/A snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.700 0
dbSNP: rs786205636
rs786205636
BBS5
0.827 0.320 2 169493750 missense variant G/A snv
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		0.700 0
dbSNP: rs786205636
rs786205636
BBS5
0.827 0.320 2 169493750 missense variant G/A snv
CUI: C0035637
Disease: Rinderpest
Rinderpest 		0.700 0
dbSNP: rs786205636
rs786205636
BBS5
0.827 0.320 2 169493750 missense variant G/A snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0