rs119482082, SPTLC1

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.
Hereditary Sensory Autonomic Neuropathy, Type 1
CUI: C0020071
Disease: Hereditary Sensory Autonomic Neuropathy, Type 1
14 0.925 0.080 9 92080044 missense variant A/C snv 0.730 1.000 10 2001 2016
Sensorimotor neuropathy
CUI: C1112256
Disease: Sensorimotor neuropathy
21 0.925 0.080 9 92080044 missense variant A/C snv 0.700 0