rs879255563
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs879255563(A;A) |
Make rs879255563(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 4901641 |
Gene | CHRNE, C17orf107 |
is a | snp |
is | mentioned by |
dbSNP | rs879255563 |
dbSNP (classic) | rs879255563 |
ClinGen | rs879255563 |
ebi | rs879255563 |
HLI | rs879255563 |
Exac | rs879255563 |
Gnomad | rs879255563 |
Varsome | rs879255563 |
LitVar | rs879255563 |
Map | rs879255563 |
PheGenI | rs879255563 |
Biobank | rs879255563 |
1000 genomes | rs879255563 |
hgdp | rs879255563 |
ensembl | rs879255563 |
geneview | rs879255563 |
scholar | rs879255563 |
rs879255563 | |
pharmgkb | rs879255563 |
gwascentral | rs879255563 |
openSNP | rs879255563 |
23andMe | rs879255563 |
SNPshot | rs879255563 |
SNPdbe | rs879255563 |
MSV3d | rs879255563 |
GWAS Ctlg | rs879255563 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255563(A;A) |
Alt | rs879255563(A;A) |
Reference | Rs879255563(G;G) |
Significance | Pathogenic |
Disease | Myasthenic syndrome |
Variation | info |
Gene | C17orf107 CHRNE |
CLNDBN | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency |
Reversed | 1 |
HGVS | NC_000017.10:g.4804936C>T |
CLNSRC | CHRNE homepage - Leiden Muscular Dystrophy pages OMIM Allelic Variant |
CLNACC | RCV000020030.28, |