rs864309662
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs864309662(-;-) |
Make rs864309662(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 69922770 |
Gene | COL13A1 |
is a | snp |
is | mentioned by |
dbSNP | rs864309662 |
dbSNP (classic) | rs864309662 |
ClinGen | rs864309662 |
ebi | rs864309662 |
HLI | rs864309662 |
Exac | rs864309662 |
Gnomad | rs864309662 |
Varsome | rs864309662 |
LitVar | rs864309662 |
Map | rs864309662 |
PheGenI | rs864309662 |
Biobank | rs864309662 |
1000 genomes | rs864309662 |
hgdp | rs864309662 |
ensembl | rs864309662 |
geneview | rs864309662 |
scholar | rs864309662 |
rs864309662 | |
pharmgkb | rs864309662 |
gwascentral | rs864309662 |
openSNP | rs864309662 |
23andMe | rs864309662 |
SNPshot | rs864309662 |
SNPdbe | rs864309662 |
MSV3d | rs864309662 |
GWAS Ctlg | rs864309662 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309662(-;-) |
Alt | rs864309662(-;-) |
Reference | Rs864309662(G;G) |
Significance | Pathogenic |
Disease | Myasthenic syndrome |
Variation | info |
Gene | COL13A1 |
CLNDBN | Myasthenic syndrome, congenital, 19 |
Reversed | 0 |
HGVS | NC_000010.10:g.71682526delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000203254.1, |