rs121912440, SOD1

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.
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
139 0.882 0.080 21 31667337 missense variant C/G;T snv 0.800 1.000 28 1993 2012
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.882 0.080 21 31667337 missense variant C/G;T snv 0.010 1.000 1 2012 2012
Amyotrophic Lateral Sclerosis, Familial
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
68 0.882 0.080 21 31667337 missense variant C/G;T snv 0.010 1.000 1 2012 2012