rs746136135
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs746136135(C;T) |
Make rs746136135(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 46875551 |
Gene | LRP4 |
is a | snp |
is | mentioned by |
dbSNP | rs746136135 |
dbSNP (classic) | rs746136135 |
ClinGen | rs746136135 |
ebi | rs746136135 |
HLI | rs746136135 |
Exac | rs746136135 |
Gnomad | rs746136135 |
Varsome | rs746136135 |
LitVar | rs746136135 |
Map | rs746136135 |
PheGenI | rs746136135 |
Biobank | rs746136135 |
1000 genomes | rs746136135 |
hgdp | rs746136135 |
ensembl | rs746136135 |
geneview | rs746136135 |
scholar | rs746136135 |
rs746136135 | |
pharmgkb | rs746136135 |
gwascentral | rs746136135 |
openSNP | rs746136135 |
23andMe | rs746136135 |
SNPshot | rs746136135 |
SNPdbe | rs746136135 |
MSV3d | rs746136135 |
GWAS Ctlg | rs746136135 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs746136135(T;T) |
Alt | rs746136135(T;T) |
Reference | Rs746136135(C;C) |
Significance | Pathogenic |
Disease | Myasthenic syndrome |
Variation | info |
Gene | LRP4 |
CLNDBN | Myasthenic syndrome, congenital, 17 |
Reversed | 0 |
HGVS | NC_000011.9:g.46897102C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000170321.4, |