rs267607091, SPTLC2

N. diseases: 3
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 0.882 0.080 14 77518097 missense variant T/A snv 0.700 1.000 3 2010 2016
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE
CUI: C4016942
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE
1 0.882 0.080 14 77518097 missense variant T/A snv 0.700 0
Hereditary Sensory Autonomic Neuropathy, Type 1
CUI: C0020071
Disease: Hereditary Sensory Autonomic Neuropathy, Type 1
14 0.882 0.080 14 77518097 missense variant T/A snv 0.010 1.000 1 2013 2013