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: rs121918328
rs121918328
BBS12
1.000 0.120 4 122742757 missense variant G/C snv 1.2E-05
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.800 1.000 0 2007 2011
dbSNP: rs587777803
rs587777803
BBS12
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: rs138011813
rs138011813
BBS12
0.925 0.120 4 122743394 missense variant C/T snv 3.6E-05 2.0E-04
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 3 2010 2019
dbSNP: rs752202089
rs752202089
BBS12
0.925 0.120 4 122743915 stop gained C/T snv 8.1E-06 7.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 3 2010 2019
dbSNP: rs1269565757
rs1269565757
BBS12
0.925 0.120 4 122743267 stop gained C/T snv 1.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 2 2010 2011
dbSNP: rs1553941369
rs1553941369
BBS12
0.925 0.120 4 122742900 frameshift variant GT/- delins
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 2 2007 2014
dbSNP: rs752202089
rs752202089
BBS12
0.925 0.120 4 122743915 stop gained C/T snv 8.1E-06 7.0E-06
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 1.000 2 2010 2011
dbSNP: rs1057517193
rs1057517193
BBS12
1.000 0.120 4 122742972 frameshift variant G/- delins
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 1.000 1 2014 2014
dbSNP: rs1173504533
rs1173504533
BBS12
1.000 0.120 4 122742160 frameshift variant T/- delins 4.0E-06
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 1.000 1 2007 2007
dbSNP: rs121918327
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs121918327
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 1.000 1 2007 2007
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: rs1553941540
rs1553941540
BBS12
1.000 0.120 4 122743686 frameshift variant C/- delins
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 1.000 1 2010 2010
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: rs750366365
rs750366365
BBS12
1.000 0.120 4 122741893 start lost A/C;G snv 4.0E-06; 1.2E-04; 4.0E-06
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 1.000 1 2014 2014
dbSNP: rs752762669
rs752762669
BBS12
0.925 0.120 4 122743422 inframe deletion CAGATGCAA/- delins 4.0E-05 8.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		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
dbSNP: rs1195341481
rs1195341481
BBS12
1.000 0.120 4 122743263 frameshift variant -/A delins
CUI: C1859570
Disease: BARDET-BIEDL SYNDROME 12
BARDET-BIEDL SYNDROME 12 		0.700 0
dbSNP: rs121918327
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.700 0
dbSNP: rs121918327
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0
dbSNP: rs121918327
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C0042798
Disease: Low Vision
Low Vision 		0.700 0
dbSNP: rs121918327
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs121918327
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.700 0
dbSNP: rs121918327
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs121918327
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 0