rs141138948, EXOSC3

N. diseases: 9
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.
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 0.700 1.000 7 1994 2014
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
CUI: C3553449
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
11 0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 0.700 1.000 5 2012 2018
Neurodevelopmental delay
CUI: C4022738
Disease: Neurodevelopmental delay
24 0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 0.700 0
Pontocerebellar Hypoplasia Type 1
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
15 0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 0.030 1.000 3 2013 2018
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 0.010 1.000 1 2013 2013
Congenital pontocerebellar hypoplasia
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
7 0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 0.010 1.000 1 2014 2014
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
39 0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 0.010 1.000 1 2020 2020
Pontoneocerebellar hypoplasia
CUI: C1261175
Disease: Pontoneocerebellar hypoplasia
10 0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 0.010 1.000 1 2014 2014
Precocious Puberty
CUI: C0034013
Disease: Precocious Puberty
20 0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 0.010 1.000 1 2014 2014