rs869320757
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAG;AAG) | 0 | common in clinvar |
(GAA;GAA) | 0 | common in clinvar |
Make rs869320757(-;-) |
Make rs869320757(-;AAG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 14 |
Position | 95535240 |
Gene | GLRX5, SCARNA13, SNHG10 |
is a | snp |
is | mentioned by |
dbSNP | rs869320757 |
dbSNP (classic) | rs869320757 |
ClinGen | rs869320757 |
ebi | rs869320757 |
HLI | rs869320757 |
Exac | rs869320757 |
Gnomad | rs869320757 |
Varsome | rs869320757 |
LitVar | rs869320757 |
Map | rs869320757 |
PheGenI | rs869320757 |
Biobank | rs869320757 |
1000 genomes | rs869320757 |
hgdp | rs869320757 |
ensembl | rs869320757 |
geneview | rs869320757 |
scholar | rs869320757 |
rs869320757 | |
pharmgkb | rs869320757 |
gwascentral | rs869320757 |
openSNP | rs869320757 |
23andMe | rs869320757 |
SNPshot | rs869320757 |
SNPdbe | rs869320757 |
MSV3d | rs869320757 |
GWAS Ctlg | rs869320757 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320757(-;-) Rs869320757(GAA;GAA) |
Alt | rs869320757(-;-) Rs869320757(GAA;GAA) |
Reference | Rs869320757(AAG;AAG) |
Significance | Pathogenic |
Disease | Spasticity |
Variation | info |
Gene | SCARNA13 SNHG10 GLRX5 |
CLNDBN | Spasticity, childhood-onset, with hyperglycinemia |
Reversed | 0 |
HGVS | NC_000014.8:g.96001577_96001579delAAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210133.1, |