rs138249161, POLR3B

N. diseases: 8
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
20 0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 0.710 1.000 1 2015 2015
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 0.700 0
Cerebellar Hypoplasia
CUI: C0266470
Disease: Cerebellar Hypoplasia
26 0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 0.700 0
Cerebellar hypoplasia with endosteal sclerosis
2 0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 0.700 0
Idiopathic hypogonadotropic hypogonadism
66 0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 0.700 0
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
14 0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 0.700 0
Oligodontia
CUI: C4082304
Disease: Oligodontia
34 0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 0.700 0