rs199476319
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs199476319(A;G) |
Make rs199476319(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 63062615 |
Gene | TPM1 |
is a | snp |
is | mentioned by |
dbSNP | rs199476319 |
dbSNP (classic) | rs199476319 |
ClinGen | rs199476319 |
ebi | rs199476319 |
HLI | rs199476319 |
Exac | rs199476319 |
Gnomad | rs199476319 |
Varsome | rs199476319 |
LitVar | rs199476319 |
Map | rs199476319 |
PheGenI | rs199476319 |
Biobank | rs199476319 |
1000 genomes | rs199476319 |
hgdp | rs199476319 |
ensembl | rs199476319 |
geneview | rs199476319 |
scholar | rs199476319 |
rs199476319 | |
pharmgkb | rs199476319 |
gwascentral | rs199476319 |
openSNP | rs199476319 |
23andMe | rs199476319 |
SNPshot | rs199476319 |
SNPdbe | rs199476319 |
MSV3d | rs199476319 |
GWAS Ctlg | rs199476319 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199476319(G;G) |
Alt | rs199476319(G;G) |
Reference | Rs199476319(A;A) |
Significance | Pathogenic |
Disease | not provided Left ventricular noncompaction 9 |
Variation | info |
Gene | TPM1 |
CLNDBN | not provided Left ventricular noncompaction 9 |
Reversed | 0 |
HGVS | NC_000015.9:g.63354814A>G |
CLNSRC | Leiden Muscular Dystrophy pages (TPM1) OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000024597.1, RCV000054794.23, |