rs80265967

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;C)	7	Associated with forms of Amyotrophic Lateral Sclerosis
(C;C)	7	Associated with forms of Amyotrophic Lateral Sclerosis

Reference

GRCh38 38.1/141

Chromosome

21

Position

31667290

Gene

SOD1

is a	snp
is	mentioned by
dbSNP	rs80265967
dbSNP (classic)	rs80265967
ClinGen	rs80265967
ebi	rs80265967
HLI	rs80265967
Exac	rs80265967
Gnomad	rs80265967
Varsome	rs80265967
LitVar	rs80265967
Map	rs80265967
PheGenI	rs80265967
Biobank	rs80265967
1000 genomes	rs80265967
hgdp	rs80265967
ensembl	rs80265967
geneview	rs80265967
scholar	rs80265967
google	rs80265967
pharmgkb	rs80265967
gwascentral	rs80265967
openSNP	rs80265967
23andMe	rs80265967
SNPshot	rs80265967
SNPdbe	rs80265967
MSV3d	rs80265967
GWAS Ctlg	rs80265967

GMAF

0.0009183

Max Magnitude

7

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]

OMIM	147450
Desc
Variant	0015
Related	also

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 Amyotrophic Lateral Sclerosis not specified
Variation	info
Gene	SOD1
CLNDBN	Amyotrophic lateral sclerosis type 1 Amyotrophic lateral sclerosis 1, autosomal recessive Amyotrophic Lateral Sclerosis, Dominant not specified
Reversed	0
HGVS	NC_000021.8:g.33039603A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015888.25, RCV000015889.25, RCV000290605.1, RCV000351962.1,