rs797045071, SPTLC1

N. diseases: 1
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 1.000 0.080 9 92047181 missense variant C/G snv 0.700 1.000 1 2016 2016