rs113994152, TSEN54

N. diseases: 11
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.
Pontocerebellar Hypoplasia Type 2A
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
11 0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 0.710 1.000 9 2008 2018
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
6 0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 0.710 1.000 4 2008 2014
Olivopontocerebellar hypoplasia, fetal-onset
CUI: C1857762
Disease: Olivopontocerebellar hypoplasia, fetal-onset
2 0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 0.710 1.000 1 2011 2011
Amblyopia
CUI: C0002418
Disease: Amblyopia
29 0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 0.700 0
Cerebellar Hypoplasia
CUI: C0266470
Disease: Cerebellar Hypoplasia
26 0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 0.700 0
Muscle Hypertonia
CUI: C0026826
Disease: Muscle Hypertonia
21 0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 0.700 0
Olivopontocerebellar hypoplasia
CUI: C1859341
Disease: Olivopontocerebellar hypoplasia
6 0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 0.700 0
Pontocerebellar Hypoplasia Type 2
CUI: C2932714
Disease: Pontocerebellar Hypoplasia Type 2
1 0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 0.020 1.000 2 2010 2014
Dyskinetic syndrome
CUI: C0013384
Disease: Dyskinetic syndrome
42 0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 0.010 1.000 1 2014 2014