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.
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
CUI: C1859301
Disease: 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
CUI: C0342384
Disease: 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
CUI: C3280644
Disease: 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
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
CUI: C2676243
Disease: 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