POLR3B, RNA polymerase III subunit B, 55703

N. diseases: 71; N. variants: 19
Disease: Cerebellar hypoplasia with endosteal sclerosis ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs138249161
rs138249161 		0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04
CUI: C1859301
Disease: Cerebellar hypoplasia with endosteal sclerosis
Cerebellar hypoplasia with endosteal sclerosis 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs775141057
rs775141057 		0.882 0.120 12 106496115 missense variant C/A;T snv 4.0E-06 2.1E-05
CUI: C1859301
Disease: Cerebellar hypoplasia with endosteal sclerosis
Cerebellar hypoplasia with endosteal sclerosis 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0