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rs80265967

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80265967(A;C)
Make rs80265967(C;C)
ReferenceGRCh38 38.1/141
Chromosome21
Position31667290
GeneSOD1
is asnp
is mentioned by
dbSNPrs80265967
ebirs80265967
HLIrs80265967
Exacrs80265967
Varsomers80265967
Maprs80265967
PheGenIrs80265967
hapmaprs80265967
1000 genomesrs80265967
hgdprs80265967
ensemblrs80265967
gopubmedrs80265967
geneviewrs80265967
scholarrs80265967
googlers80265967
pharmgkbrs80265967
gwascentralrs80265967
openSNPrs80265967
23andMers80265967
23andMe allrs80265967
SNP Nexus

SNPshotrs80265967
SNPdbers80265967
MSV3drs80265967
GWAS Ctlgrs80265967
GMAF0.0009183
Max Magnitude0
rs80265967, also known as D90A or less commonly Asp90Ala, is a mutation in the superoxide dismutase 1 SOD1 gene.

rs80265967(C) has been associated with familial (inherited) forms of amyotrophic lateral sclerosis, in both heterozygous dominant and homozygous recessive forms. [PMID 8446170]

OMIM147450
Desc
Variant0015
Relatedalso
ClinVar
Risk rs80265967(C;C)
Alt rs80265967(C;C)
Reference rs80265967(A;A)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis type 1 Amyotrophic lateral sclerosis 1
Variation info
Gene SOD1
CLNDBN Amyotrophic lateral sclerosis type 1 Amyotrophic lateral sclerosis 1, autosomal recessive
Reversed 0
HGVS NC_000021.8:g.33039603A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015888.25, RCV000015889.25,