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: rs104893678
rs104893678
ARL6
0.925 0.120 3 97788004 stop gained C/T snv 8.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs1057516533
rs1057516533
BBS1 ; ZDHHC24
0.925 0.120 11 66523842 frameshift variant T/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs1060500996
rs1060500996
BBS10
1.000 0.120 12 76347724 frameshift variant ATAAA/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs1060503690
rs1060503690
BBS1 ; ZDHHC24
0.925 0.120 11 66526708 stop gained G/T snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
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: rs1064796315
rs1064796315
BBS10
0.925 0.120 12 76345955 frameshift variant C/- delins 2.8E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
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: rs113994178
rs113994178
BBS1
1.000 0.120 11 66510646 start lost AAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCG/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs113994179
rs113994179
BBS1 ; ZDHHC24
0.925 0.120 11 66523453 splice region variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs113994180
rs113994180
BBS1 ; ZDHHC24
1.000 0.120 11 66529817 splice acceptor variant A/G 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: 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: 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: 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: 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: rs119103286
rs119103286
TTC8
0.851 0.280 14 88841196 missense variant G/A snv 6.4E-05 3.5E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		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: 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: rs137852858
rs137852858
BBS9
0.925 0.120 7 33336487 stop gained C/T snv
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
dbSNP: rs137962929
rs137962929
BBS9
1.000 0.120 7 33152852 splice donor variant G/A snv 2.4E-05 7.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 0
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
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