rs1565538350, TPI1

N. diseases: 7
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.
Anemia, Hemolytic
CUI: C0002878
Disease: Anemia, Hemolytic
31 0.851 0.200 12 6870074 missense variant G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.200 12 6870074 missense variant G/A snv 0.700 0
Leukomalacia, Periventricular
CUI: C0023529
Disease: Leukomalacia, Periventricular
10 0.851 0.200 12 6870074 missense variant G/A snv 0.700 0
Paralysis of diaphragm
CUI: C4551685
Disease: Paralysis of diaphragm
4 0.851 0.200 12 6870074 missense variant G/A snv 0.700 0
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.851 0.200 12 6870074 missense variant G/A snv 0.700 0
Progressive muscle weakness
CUI: C0240421
Disease: Progressive muscle weakness
15 0.851 0.200 12 6870074 missense variant G/A snv 0.700 0
Triosephosphate Isomerase Deficiency
CUI: C1860808
Disease: Triosephosphate Isomerase Deficiency
9 0.851 0.200 12 6870074 missense variant G/A snv 0.700 0