rs886037842
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs886037842(C;G) |
Make rs886037842(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 11 |
Position | 47449163 |
Gene | RAPSN |
is a | snp |
is | mentioned by |
dbSNP | rs886037842 |
dbSNP (classic) | rs886037842 |
ClinGen | rs886037842 |
ebi | rs886037842 |
HLI | rs886037842 |
Exac | rs886037842 |
Gnomad | rs886037842 |
Varsome | rs886037842 |
LitVar | rs886037842 |
Map | rs886037842 |
PheGenI | rs886037842 |
Biobank | rs886037842 |
1000 genomes | rs886037842 |
hgdp | rs886037842 |
ensembl | rs886037842 |
geneview | rs886037842 |
scholar | rs886037842 |
rs886037842 | |
pharmgkb | rs886037842 |
gwascentral | rs886037842 |
openSNP | rs886037842 |
23andMe | rs886037842 |
SNPshot | rs886037842 |
SNPdbe | rs886037842 |
MSV3d | rs886037842 |
GWAS Ctlg | rs886037842 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886037842(G;G) |
Alt | rs886037842(G;G) |
Reference | Rs886037842(C;C) |
Significance | Pathogenic |
Disease | Congenital myasthenic syndrome |
Variation | info |
Gene | RAPSN |
CLNDBN | Congenital myasthenic syndrome |
Reversed | 1 |
HGVS | NC_000011.9:g.47470715G>C |
CLNSRC | |
CLNACC | RCV000235022.1, |