rs775437084, SPTLC2

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 AND AUTONOMIC, TYPE IC
CUI: C3150896
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
5 0.925 0.080 14 77576851 missense variant G/A snv 1.2E-05 0.800 1.000 2 2016 2017
Sensory Neuropathy, Hereditary
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
2 0.925 0.080 14 77576851 missense variant G/A snv 1.2E-05 0.010 1.000 1 2016 2016