rs773526895
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs773526895(-;C) |
Make rs773526895(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 4898864 |
Gene | CHRNE, C17orf107 |
is a | snp |
is | mentioned by |
dbSNP | rs773526895 |
dbSNP (classic) | rs773526895 |
ClinGen | rs773526895 |
ebi | rs773526895 |
HLI | rs773526895 |
Exac | rs773526895 |
Gnomad | rs773526895 |
Varsome | rs773526895 |
LitVar | rs773526895 |
Map | rs773526895 |
PheGenI | rs773526895 |
Biobank | rs773526895 |
1000 genomes | rs773526895 |
hgdp | rs773526895 |
ensembl | rs773526895 |
geneview | rs773526895 |
scholar | rs773526895 |
rs773526895 | |
pharmgkb | rs773526895 |
gwascentral | rs773526895 |
openSNP | rs773526895 |
23andMe | rs773526895 |
SNPshot | rs773526895 |
SNPdbe | rs773526895 |
MSV3d | rs773526895 |
GWAS Ctlg | rs773526895 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs773526895(C;C) |
Alt | rs773526895(C;C) |
Reference | Rs773526895(-;-) |
Significance | Pathogenic |
Disease | Myasthenic syndrome Congenital myasthenic syndrome not provided |
Variation | info |
Gene | C17orf107 CHRNE |
CLNDBN | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Congenital myasthenic syndrome not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.4802160dupC |
CLNSRC | CHRNE homepage - Leiden Muscular Dystrophy pages OMIM Allelic Variant |
CLNACC | RCV000020024.28, RCV000235035.1, RCV000479377.1, |