rs121908516
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121908516(A;T) |
Make rs121908516(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 32136964 |
Gene | SPAST |
is a | snp |
is | mentioned by |
dbSNP | rs121908516 |
dbSNP (classic) | rs121908516 |
ClinGen | rs121908516 |
ebi | rs121908516 |
HLI | rs121908516 |
Exac | rs121908516 |
Gnomad | rs121908516 |
Varsome | rs121908516 |
LitVar | rs121908516 |
Map | rs121908516 |
PheGenI | rs121908516 |
Biobank | rs121908516 |
1000 genomes | rs121908516 |
hgdp | rs121908516 |
ensembl | rs121908516 |
geneview | rs121908516 |
scholar | rs121908516 |
rs121908516 | |
pharmgkb | rs121908516 |
gwascentral | rs121908516 |
openSNP | rs121908516 |
23andMe | rs121908516 |
SNPshot | rs121908516 |
SNPdbe | rs121908516 |
MSV3d | rs121908516 |
GWAS Ctlg | rs121908516 |
Merged from | Rs28939368 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908516(T;T) |
Alt | rs121908516(T;T) |
Reference | Rs121908516(A;A) |
Significance | Pathogenic |
Disease | Spastic paraplegia 4 |
Variation | info |
Gene | SPAST |
CLNDBN | Spastic paraplegia 4, autosomal dominant |
Reversed | 0 |
HGVS | NC_000002.11:g.32362033A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006024.2, |