rs118203986, CCT5

N. diseases: 2
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, with Spastic Paraplegia, Autosomal Recessive
CUI: C1850395
Disease: Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive
1 0.925 0.080 5 10256063 missense variant A/G snv 9.9E-05 3.9E-04 0.800 1.000 1 2006 2006
Sensory Neuropathy, Hereditary
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
2 0.925 0.080 5 10256063 missense variant A/G snv 9.9E-05 3.9E-04 0.010 1.000 1 2017 2017