rs267607087, SPTLC1

N. diseases: 5
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
14 0.851 0.120 9 92047261 missense variant G/A;T snv 0.810 1.000 9 2001 2018
Bilateral cataracts (disorder)
CUI: C0521707
Disease: Bilateral cataracts (disorder)
37 0.851 0.120 9 92047261 missense variant G/A;T snv 0.010 1.000 1 2013 2013
Congenital Bilateral Cataracts
CUI: C3277059
Disease: Congenital Bilateral Cataracts
1 0.851 0.120 9 92047261 missense variant G/A;T snv 0.010 1.000 1 2013 2013
Generalized amyotrophy
CUI: C1389113
Disease: Generalized amyotrophy
6 0.851 0.120 9 92047261 missense variant G/A;T snv 0.010 1.000 1 2013 2013
Hereditary Sensory and Autonomic Neuropathies
6 0.851 0.120 9 92047261 missense variant G/A;T snv 0.010 1.000 1 2009 2009