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: 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: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		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: 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: 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: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.700 0