rs121912452, SOD1

N. diseases: 6
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 0.807 0.120 21 31667271 missense variant T/C;G snv 4.0E-06 0.810 1.000 24 1993 2012
Amyotrophic Lateral Sclerosis, Familial
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
68 0.807 0.120 21 31667271 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 1996 1996
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.807 0.120 21 31667271 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2010 2010
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.807 0.120 21 31667271 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2010 2010
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.807 0.120 21 31667271 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 1995 1995
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.807 0.120 21 31667271 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2010 2010