rs369227537
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs369227537(A;T) |
Make rs369227537(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 89550502 |
Gene | SPG7 |
is a | snp |
is | mentioned by |
dbSNP | rs369227537 |
dbSNP (classic) | rs369227537 |
ClinGen | rs369227537 |
ebi | rs369227537 |
HLI | rs369227537 |
Exac | rs369227537 |
Gnomad | rs369227537 |
Varsome | rs369227537 |
LitVar | rs369227537 |
Map | rs369227537 |
PheGenI | rs369227537 |
Biobank | rs369227537 |
1000 genomes | rs369227537 |
hgdp | rs369227537 |
ensembl | rs369227537 |
geneview | rs369227537 |
scholar | rs369227537 |
rs369227537 | |
pharmgkb | rs369227537 |
gwascentral | rs369227537 |
openSNP | rs369227537 |
23andMe | rs369227537 |
SNPshot | rs369227537 |
SNPdbe | rs369227537 |
MSV3d | rs369227537 |
GWAS Ctlg | rs369227537 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs369227537(T;T) |
Alt | rs369227537(T;T) |
Reference | Rs369227537(A;A) |
Significance | Pathogenic |
Disease | Spastic paraplegia 7 not provided |
Variation | info |
Gene | RPL13 SPG7 |
CLNDBN | Spastic paraplegia 7 not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.89616910A>T |
CLNSRC | |
CLNACC | RCV000168257.2, RCV000413970.1, |