Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs776679653
rs776679653
ISCA1
0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C4539919
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 		0.800 1.000 2 2017 2018
dbSNP: rs776679653
rs776679653
ISCA1
0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C3502075
Disease: Multiple Mitochondrial Dysfunctions Syndrome
Multiple Mitochondrial Dysfunctions Syndrome 		0.710 1.000 1 2017 2017
dbSNP: rs776679653
rs776679653
ISCA1
0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2017 2017
dbSNP: rs776679653
rs776679653
ISCA1
0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 1.000 1 2017 2017
dbSNP: rs776679653
rs776679653
ISCA1
0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.700 1.000 1 2017 2017
dbSNP: rs776679653
rs776679653
ISCA1
0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		0.700 1.000 1 2017 2017
dbSNP: rs776679653
rs776679653
ISCA1
0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		0.700 1.000 1 2017 2017
dbSNP: rs776679653
rs776679653
ISCA1
0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.700 1.000 1 2017 2017
dbSNP: rs776679653
rs776679653
ISCA1
0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 1 2017 2017
dbSNP: rs776679653
rs776679653
ISCA1
0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 1.000 1 2017 2017
dbSNP: rs776679653
rs776679653
ISCA1
0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		0.700 1.000 1 2017 2017