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
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.810 1.000 12 2002 2014
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
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: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 1.000 2 2002 2016
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 2 2002 2019
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.700 0
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C4022906
Disease: Delayed social development
Delayed social development 		0.700 0
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C3808410
Disease: Gastrointestinal malrotation
Gastrointestinal malrotation 		0.700 0
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		0.700 0
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		0.700 0
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C4021330
Disease: Curved toe phalanx
Curved toe phalanx 		0.700 0
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.700 0
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C1859846
Disease: Childhood-onset truncal obesity
Childhood-onset truncal obesity 		0.700 0
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C0004096
Disease: Asthma
Asthma 		0.700 0