rs121912445, SOD1

N. diseases: 4
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 31667331 missense variant A/T snv 0.720 1.000 22 1993 2017
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
CUI: C3542025
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
54 0.882 0.080 21 31667331 missense variant A/T snv 0.700 0
Amyotrophic Lateral Sclerosis, Familial
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
68 0.882 0.080 21 31667331 missense variant A/T snv 0.020 1.000 2 1996 2017
Ophthalmoparesis
CUI: C0751401
Disease: Ophthalmoparesis
4 0.882 0.080 21 31667331 missense variant A/T snv 0.010 1.000 1 1996 1996