rs1564617866, POLR3A

N. diseases: 7
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.
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.925 0.200 10 78000983 missense variant T/G snv 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.925 0.200 10 78000983 missense variant T/G snv 0.700 0
Leukodystrophy, Hypomyelinating, 4
CUI: C2677109
Disease: Leukodystrophy, Hypomyelinating, 4
2 0.925 0.200 10 78000983 missense variant T/G snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.925 0.200 10 78000983 missense variant T/G snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.925 0.200 10 78000983 missense variant T/G snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.200 10 78000983 missense variant T/G snv 0.700 0
Spastic tetraparesis
CUI: C0575059
Disease: Spastic tetraparesis
5 0.925 0.200 10 78000983 missense variant T/G snv 0.700 0