rs690016545
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs690016545(A;A) |
Make rs690016545(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 57567598 |
Gene | KIF5A |
is a | snp |
is | mentioned by |
dbSNP | rs690016545 |
dbSNP (classic) | rs690016545 |
ClinGen | rs690016545 |
ebi | rs690016545 |
HLI | rs690016545 |
Exac | rs690016545 |
Gnomad | rs690016545 |
Varsome | rs690016545 |
LitVar | rs690016545 |
Map | rs690016545 |
PheGenI | rs690016545 |
Biobank | rs690016545 |
1000 genomes | rs690016545 |
hgdp | rs690016545 |
ensembl | rs690016545 |
geneview | rs690016545 |
scholar | rs690016545 |
rs690016545 | |
pharmgkb | rs690016545 |
gwascentral | rs690016545 |
openSNP | rs690016545 |
23andMe | rs690016545 |
SNPshot | rs690016545 |
SNPdbe | rs690016545 |
MSV3d | rs690016545 |
GWAS Ctlg | rs690016545 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs690016545(A;A) |
Alt | rs690016545(A;A) |
Reference | Rs690016545(G;G) |
Significance | Pathogenic |
Disease | Spastic paraplegia 10 |
Variation | info |
Gene | KIF5A |
CLNDBN | Spastic paraplegia 10 |
Reversed | 0 |
HGVS | NC_000012.11:g.57961381G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000149510.4, |