rs199474706
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199474706(C;G) |
Make rs199474706(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 46859493 |
Gene | MYL3 |
is a | snp |
is | mentioned by |
dbSNP | rs199474706 |
dbSNP (classic) | rs199474706 |
ClinGen | rs199474706 |
ebi | rs199474706 |
HLI | rs199474706 |
Exac | rs199474706 |
Gnomad | rs199474706 |
Varsome | rs199474706 |
LitVar | rs199474706 |
Map | rs199474706 |
PheGenI | rs199474706 |
Biobank | rs199474706 |
1000 genomes | rs199474706 |
hgdp | rs199474706 |
ensembl | rs199474706 |
geneview | rs199474706 |
scholar | rs199474706 |
rs199474706 | |
pharmgkb | rs199474706 |
gwascentral | rs199474706 |
openSNP | rs199474706 |
23andMe | rs199474706 |
SNPshot | rs199474706 |
SNPdbe | rs199474706 |
MSV3d | rs199474706 |
GWAS Ctlg | rs199474706 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199474706(G;G) |
Alt | rs199474706(G;G) |
Reference | Rs199474706(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | MYL3 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000003.11:g.46900983G>C |
CLNSRC | Leiden Muscular Dystrophy pages (MYL3) |
CLNACC | RCV000024474.2, |