rs141659620
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 7 | Spastic paraplegia 7 |
(A;G) | 3 | Unaffected carrier of a spastic paraplegia 7 mutation |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 89531961 |
Gene | SPG7 |
is a | snp |
is | mentioned by |
dbSNP | rs141659620 |
dbSNP (classic) | rs141659620 |
ClinGen | rs141659620 |
ebi | rs141659620 |
HLI | rs141659620 |
Exac | rs141659620 |
Gnomad | rs141659620 |
Varsome | rs141659620 |
LitVar | rs141659620 |
Map | rs141659620 |
PheGenI | rs141659620 |
Biobank | rs141659620 |
1000 genomes | rs141659620 |
hgdp | rs141659620 |
ensembl | rs141659620 |
geneview | rs141659620 |
scholar | rs141659620 |
rs141659620 | |
pharmgkb | rs141659620 |
gwascentral | rs141659620 |
openSNP | rs141659620 |
23andMe | rs141659620 |
SNPshot | rs141659620 |
SNPdbe | rs141659620 |
MSV3d | rs141659620 |
GWAS Ctlg | rs141659620 |
GMAF | 0.0009183 |
Max Magnitude | 7 |
aka c.1045G>A, p.Gly349Ser and G349S
Recessively inherited variant associated with spastic paraplegia type 7
ClinVar | |
---|---|
Risk | Rs141659620(A;A) rs141659620(C;C) |
Alt | Rs141659620(A;A) rs141659620(C;C) |
Reference | Rs141659620(G;G) |
Significance | Pathogenic |
Disease | Spastic paraplegia 7 not provided Spastic Paraplegia |
Variation | info |
Gene | SPG7 |
CLNDBN | Spastic paraplegia 7 not provided Spastic Paraplegia, Recessive |
Reversed | 0 |
HGVS | NC_000016.9:g.89598369G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007221.6, RCV000198037.2, RCV000300023.1, |