rs397514743
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397514743(A;G) |
Make rs397514743(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 3412644 |
Gene | PRDM16 |
is a | snp |
is | mentioned by |
dbSNP | rs397514743 |
dbSNP (classic) | rs397514743 |
ClinGen | rs397514743 |
ebi | rs397514743 |
HLI | rs397514743 |
Exac | rs397514743 |
Gnomad | rs397514743 |
Varsome | rs397514743 |
LitVar | rs397514743 |
Map | rs397514743 |
PheGenI | rs397514743 |
Biobank | rs397514743 |
1000 genomes | rs397514743 |
hgdp | rs397514743 |
ensembl | rs397514743 |
geneview | rs397514743 |
scholar | rs397514743 |
rs397514743 | |
pharmgkb | rs397514743 |
gwascentral | rs397514743 |
openSNP | rs397514743 |
23andMe | rs397514743 |
SNPshot | rs397514743 |
SNPdbe | rs397514743 |
MSV3d | rs397514743 |
GWAS Ctlg | rs397514743 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514743(G;G) |
Alt | rs397514743(G;G) |
Reference | Rs397514743(A;A) |
Significance | Pathogenic |
Disease | Left ventricular noncompaction 8 |
Variation | info |
Gene | PRDM16 |
CLNDBN | Left ventricular noncompaction 8 |
Reversed | 0 |
HGVS | NC_000001.10:g.3329208A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000054520.3, |