rs786205153
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786205153(A;A) |
Make rs786205153(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 46875806 |
Gene | LRP4 |
is a | snp |
is | mentioned by |
dbSNP | rs786205153 |
dbSNP (classic) | rs786205153 |
ClinGen | rs786205153 |
ebi | rs786205153 |
HLI | rs786205153 |
Exac | rs786205153 |
Gnomad | rs786205153 |
Varsome | rs786205153 |
LitVar | rs786205153 |
Map | rs786205153 |
PheGenI | rs786205153 |
Biobank | rs786205153 |
1000 genomes | rs786205153 |
hgdp | rs786205153 |
ensembl | rs786205153 |
geneview | rs786205153 |
scholar | rs786205153 |
rs786205153 | |
pharmgkb | rs786205153 |
gwascentral | rs786205153 |
openSNP | rs786205153 |
23andMe | rs786205153 |
SNPshot | rs786205153 |
SNPdbe | rs786205153 |
MSV3d | rs786205153 |
GWAS Ctlg | rs786205153 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205153(A;A) |
Alt | rs786205153(A;A) |
Reference | Rs786205153(G;G) |
Significance | Pathogenic |
Disease | Myasthenic syndrome |
Variation | info |
Gene | LRP4 |
CLNDBN | Myasthenic syndrome, congenital, 17 |
Reversed | 1 |
HGVS | NC_000011.9:g.46897357C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000170320.4, |