rs730882246, ISCA2;NPC2

N. diseases: 8
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
2 0.807 0.200 14 74494329 missense variant G/A snv 0.700 1.000 2 2015 2015
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4
3 0.807 0.200 14 74494329 missense variant G/A snv 0.700 1.000 2 2015 2015
Death in infancy
CUI: C1858430
Disease: Death in infancy
7 0.807 0.200 14 74494329 missense variant G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.200 14 74494329 missense variant G/A snv 0.700 0
Muscular hypotonia of the trunk
CUI: C1853743
Disease: Muscular hypotonia of the trunk
25 0.807 0.200 14 74494329 missense variant G/A snv 0.700 0
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.807 0.200 14 74494329 missense variant G/A snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.807 0.200 14 74494329 missense variant G/A snv 0.700 0
Spastic Quadriplegia
CUI: C0426970
Disease: Spastic Quadriplegia
7 0.807 0.200 14 74494329 missense variant G/A snv 0.700 0