rs886037628
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs886037628(-;T) |
Make rs886037628(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 4899255 |
Gene | CHRNE, C17orf107 |
is a | snp |
is | mentioned by |
dbSNP | rs886037628 |
dbSNP (classic) | rs886037628 |
ClinGen | rs886037628 |
ebi | rs886037628 |
HLI | rs886037628 |
Exac | rs886037628 |
Gnomad | rs886037628 |
Varsome | rs886037628 |
LitVar | rs886037628 |
Map | rs886037628 |
PheGenI | rs886037628 |
Biobank | rs886037628 |
1000 genomes | rs886037628 |
hgdp | rs886037628 |
ensembl | rs886037628 |
geneview | rs886037628 |
scholar | rs886037628 |
rs886037628 | |
pharmgkb | rs886037628 |
gwascentral | rs886037628 |
openSNP | rs886037628 |
23andMe | rs886037628 |
SNPshot | rs886037628 |
SNPdbe | rs886037628 |
MSV3d | rs886037628 |
GWAS Ctlg | rs886037628 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886037628(T;T) |
Alt | rs886037628(T;T) |
Reference | Rs886037628(-;-) |
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.4802550_4802551insA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000020023.30, |