rs776679653, ISCA1

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.
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
CUI: C4539919
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
1 0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06 0.800 1.000 2 2017 2018
Multiple Mitochondrial Dysfunctions Syndrome
CUI: C3502075
Disease: Multiple Mitochondrial Dysfunctions Syndrome
2 0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06 0.710 1.000 1 2017 2017
Aplasia/Hypoplasia of the corpus callosum
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
8 0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06 0.700 1.000 1 2017 2017
Generalized tonic seizures
CUI: C1836508
Disease: Generalized tonic seizures
3 0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06 0.700 1.000 1 2017 2017
Increased serum lactate
CUI: C1836440
Disease: Increased serum lactate
2 0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06 0.700 1.000 1 2017 2017
Leukodystrophy
CUI: C0023520
Disease: Leukodystrophy
27 0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06 0.700 1.000 1 2017 2017
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06 0.700 1.000 1 2017 2017
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06 0.700 1.000 1 2017 2017
Pachygyria
CUI: C0266483
Disease: Pachygyria
8 0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06 0.700 1.000 1 2017 2017
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06 0.700 1.000 1 2017 2017
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06 0.700 1.000 1 2017 2017