rs730882234, PTRH2

N. diseases: 4
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.
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET
CUI: C4015728
Disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET
2 0.925 17 59697725 missense variant T/G snv 0.800 0
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.925 17 59697725 missense variant T/G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 17 59697725 missense variant T/G snv 0.700 0
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.925 17 59697725 missense variant T/G snv 0.700 0