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: rs775141057
rs775141057
POLR3B ; LOC100287944
0.882 0.120 12 106496115 missense variant C/A;T snv 4.0E-06 2.1E-05
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.700 0
dbSNP: rs775141057
rs775141057
POLR3B ; LOC100287944
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 		0.700 0
dbSNP: rs775141057
rs775141057
POLR3B ; LOC100287944
0.882 0.120 12 106496115 missense variant C/A;T snv 4.0E-06 2.1E-05
CUI: C3280644
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 		0.700 0
dbSNP: rs775141057
rs775141057
POLR3B ; LOC100287944
0.882 0.120 12 106496115 missense variant C/A;T snv 4.0E-06 2.1E-05
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.700 0
dbSNP: rs775141057
rs775141057
POLR3B ; LOC100287944
0.882 0.120 12 106496115 missense variant C/A;T snv 4.0E-06 2.1E-05
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.700 0
dbSNP: rs775141057
rs775141057
POLR3B ; LOC100287944
0.882 0.120 12 106496115 missense variant C/A;T snv 4.0E-06 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0