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: rs121912608
rs121912608
ARL13B
1.000 0.120 3 94036663 missense variant C/A;T snv 4.0E-06
CUI: C2676771
Disease: JOUBERT SYNDROME 8 (disorder)
JOUBERT SYNDROME 8 (disorder) 		0.800 1.000 1 2008 2015
dbSNP: rs121912606
rs121912606
ARL13B
1.000 0.120 3 94003764 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C2676771
Disease: JOUBERT SYNDROME 8 (disorder)
JOUBERT SYNDROME 8 (disorder) 		0.800 1.000 0 2008 2015
dbSNP: rs863225430
rs863225430
ARL13B
1.000 0.120 3 94003785 missense variant A/G snv
CUI: C2676771
Disease: JOUBERT SYNDROME 8 (disorder)
JOUBERT SYNDROME 8 (disorder) 		0.800 1.000 0 2008 2015
dbSNP: rs121912607
rs121912607
ARL13B
1.000 0.120 3 94003774 stop gained G/A snv
CUI: C2676771
Disease: JOUBERT SYNDROME 8 (disorder)
JOUBERT SYNDROME 8 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs758972393
rs758972393
ARL13B
1.000 0.120 3 94035411 missense variant A/G snv 8.2E-06 2.8E-05
CUI: C2676771
Disease: JOUBERT SYNDROME 8 (disorder)
JOUBERT SYNDROME 8 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs863225149
rs863225149
ARL13B
1.000 0.120 3 93995879 missense variant T/G snv
CUI: C2676771
Disease: JOUBERT SYNDROME 8 (disorder)
JOUBERT SYNDROME 8 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs1560002959
rs1560002959
ARL13B
1.000 0.120 3 94035341 frameshift variant ACAA/- delins
CUI: C2676771
Disease: JOUBERT SYNDROME 8 (disorder)
JOUBERT SYNDROME 8 (disorder) 		0.700 0
dbSNP: rs764109067
rs764109067
ARL13B
0.851 0.280 3 94036664 missense variant G/A;T snv 4.0E-06
CUI: C2881341
Disease: Hypermetropia, bilateral
Hypermetropia, bilateral 		0.700 0
dbSNP: rs764109067
rs764109067
ARL13B
0.851 0.280 3 94036664 missense variant G/A;T snv 4.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0
dbSNP: rs764109067
rs764109067
ARL13B
0.851 0.280 3 94036664 missense variant G/A;T snv 4.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0
dbSNP: rs764109067
rs764109067
ARL13B
0.851 0.280 3 94036664 missense variant G/A;T snv 4.0E-06
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.700 0
dbSNP: rs764109067
rs764109067
ARL13B
0.851 0.280 3 94036664 missense variant G/A;T snv 4.0E-06
CUI: C1864785
Disease: Normal kidneys
Normal kidneys 		0.700 0
dbSNP: rs764109067
rs764109067
ARL13B
0.851 0.280 3 94036664 missense variant G/A;T snv 4.0E-06
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		0.700 0