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.
NEUROPATHY, HEREDITARY SENSORY, TYPE IF
CUI: C3810194
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IF
1 0.925 0.080 11 63646550 missense variant T/C snv 0.800 1.000 1 2014 2014
Hereditary Sensory and Autonomic Neuropathies
CUI: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
6 0.925 0.080 11 63646550 missense variant T/C snv 0.020 1.000 2 2014 2019
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.925 0.080 11 63646550 missense variant T/C snv 0.010 1.000 1 2019 2019
Deformity
CUI: C0302142
Disease: Deformity
26 0.925 0.080 11 63646550 missense variant T/C snv 0.010 1.000 1 2019 2019
Hereditary Sensory Autonomic Neuropathy, Type 1
CUI: C0020071
Disease: Hereditary Sensory Autonomic Neuropathy, Type 1
14 0.925 0.080 11 63646550 missense variant T/C snv 0.010 1.000 1 2019 2019