rs864309663
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs864309663(-;-) |
Make rs864309663(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 69888303 |
Gene | COL13A1 |
is a | snp |
is | mentioned by |
dbSNP | rs864309663 |
dbSNP (classic) | rs864309663 |
ClinGen | rs864309663 |
ebi | rs864309663 |
HLI | rs864309663 |
Exac | rs864309663 |
Gnomad | rs864309663 |
Varsome | rs864309663 |
LitVar | rs864309663 |
Map | rs864309663 |
PheGenI | rs864309663 |
Biobank | rs864309663 |
1000 genomes | rs864309663 |
hgdp | rs864309663 |
ensembl | rs864309663 |
geneview | rs864309663 |
scholar | rs864309663 |
rs864309663 | |
pharmgkb | rs864309663 |
gwascentral | rs864309663 |
openSNP | rs864309663 |
23andMe | rs864309663 |
SNPshot | rs864309663 |
SNPdbe | rs864309663 |
MSV3d | rs864309663 |
GWAS Ctlg | rs864309663 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309663(-;-) |
Alt | rs864309663(-;-) |
Reference | Rs864309663(G;G) |
Significance | Pathogenic |
Disease | Myasthenic syndrome |
Variation | info |
Gene | COL13A1 |
CLNDBN | Myasthenic syndrome, congenital, 19 |
Reversed | 0 |
HGVS | NC_000010.10:g.71648059delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000203249.1, |