rs758361736
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs758361736(G;G) |
Make rs758361736(G;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 89649836 |
Gene | KIF7 |
is a | snp |
is | mentioned by |
dbSNP | rs758361736 |
dbSNP (classic) | rs758361736 |
ClinGen | rs758361736 |
ebi | rs758361736 |
HLI | rs758361736 |
Exac | rs758361736 |
Gnomad | rs758361736 |
Varsome | rs758361736 |
LitVar | rs758361736 |
Map | rs758361736 |
PheGenI | rs758361736 |
Biobank | rs758361736 |
1000 genomes | rs758361736 |
hgdp | rs758361736 |
ensembl | rs758361736 |
geneview | rs758361736 |
scholar | rs758361736 |
rs758361736 | |
pharmgkb | rs758361736 |
gwascentral | rs758361736 |
openSNP | rs758361736 |
23andMe | rs758361736 |
SNPshot | rs758361736 |
SNPdbe | rs758361736 |
MSV3d | rs758361736 |
GWAS Ctlg | rs758361736 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758361736(G;G) |
Alt | rs758361736(G;G) |
Reference | Rs758361736(T;T) |
Significance | Probable-Pathogenic |
Disease | Ataxia Nystagmus Postaxial foot polydactyly Postaxial hand polydactyly Spasticity Strabismus Ventriculomegaly |
Variation | info |
Gene | KIF7 |
CLNDBN | Ataxia Nystagmus Postaxial foot polydactyly Postaxial hand polydactyly Spasticity Strabismus Ventriculomegaly |
Reversed | 0 |
HGVS | NC_000015.9:g.90193067T>G |
CLNSRC | |
CLNACC | RCV000415003.1, |