rs879255564
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs879255564(-;-) |
Make rs879255564(-;AG) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 232530139 |
Gene | CHRND |
is a | snp |
is | mentioned by |
dbSNP | rs879255564 |
dbSNP (classic) | rs879255564 |
ClinGen | rs879255564 |
ebi | rs879255564 |
HLI | rs879255564 |
Exac | rs879255564 |
Gnomad | rs879255564 |
Varsome | rs879255564 |
LitVar | rs879255564 |
Map | rs879255564 |
PheGenI | rs879255564 |
Biobank | rs879255564 |
1000 genomes | rs879255564 |
hgdp | rs879255564 |
ensembl | rs879255564 |
geneview | rs879255564 |
scholar | rs879255564 |
rs879255564 | |
pharmgkb | rs879255564 |
gwascentral | rs879255564 |
openSNP | rs879255564 |
23andMe | rs879255564 |
SNPshot | rs879255564 |
SNPdbe | rs879255564 |
MSV3d | rs879255564 |
GWAS Ctlg | rs879255564 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255564(-;-) |
Alt | rs879255564(-;-) |
Reference | Rs879255564(AG;AG) |
Significance | Pathogenic |
Disease | Myasthenic syndrome |
Variation | info |
Gene | CHRND |
CLNDBN | Myasthenic syndrome, congenital, 3b, fast-channel |
Reversed | 0 |
HGVS | NC_000002.11:g.233394849_233394850delAG |
CLNSRC | Leiden Muscular Dystrophy pages (CHRND) OMIM Allelic Variant |
CLNACC | RCV000020035.28, |