rs121434442
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121434442(C;T) |
Make rs121434442(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 57569274 |
Gene | KIF5A |
is a | snp |
is | mentioned by |
dbSNP | rs121434442 |
dbSNP (classic) | rs121434442 |
ClinGen | rs121434442 |
ebi | rs121434442 |
HLI | rs121434442 |
Exac | rs121434442 |
Gnomad | rs121434442 |
Varsome | rs121434442 |
LitVar | rs121434442 |
Map | rs121434442 |
PheGenI | rs121434442 |
Biobank | rs121434442 |
1000 genomes | rs121434442 |
hgdp | rs121434442 |
ensembl | rs121434442 |
geneview | rs121434442 |
scholar | rs121434442 |
rs121434442 | |
pharmgkb | rs121434442 |
gwascentral | rs121434442 |
openSNP | rs121434442 |
23andMe | rs121434442 |
SNPshot | rs121434442 |
SNPdbe | rs121434442 |
MSV3d | rs121434442 |
GWAS Ctlg | rs121434442 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434442(T;T) |
Alt | rs121434442(T;T) |
Reference | Rs121434442(C;C) |
Significance | Pathogenic |
Disease | Spastic paraplegia 10 |
Variation | info |
Gene | KIF5A |
CLNDBN | Spastic paraplegia 10 |
Reversed | 0 |
HGVS | NC_000012.11:g.57963057C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007209.4, |