rs397516404
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397516404(C;T) |
Make rs397516404(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 110913140 |
Gene | MYL2 |
is a | snp |
is | mentioned by |
dbSNP | rs397516404 |
dbSNP (classic) | rs397516404 |
ClinGen | rs397516404 |
ebi | rs397516404 |
HLI | rs397516404 |
Exac | rs397516404 |
Gnomad | rs397516404 |
Varsome | rs397516404 |
LitVar | rs397516404 |
Map | rs397516404 |
PheGenI | rs397516404 |
Biobank | rs397516404 |
1000 genomes | rs397516404 |
hgdp | rs397516404 |
ensembl | rs397516404 |
geneview | rs397516404 |
scholar | rs397516404 |
rs397516404 | |
pharmgkb | rs397516404 |
gwascentral | rs397516404 |
openSNP | rs397516404 |
23andMe | rs397516404 |
SNPshot | rs397516404 |
SNPdbe | rs397516404 |
MSV3d | rs397516404 |
GWAS Ctlg | rs397516404 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516404(G;G) rs397516404(T;T) |
Alt | rs397516404(G;G) rs397516404(T;T) |
Reference | Rs397516404(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified not provided |
Variation | info |
Gene | MYL2 |
CLNDBN | not specified not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.111350944G>A; NC_000012.11:g.111350944G>C |
CLNSRC | |
CLNACC | RCV000036397.2, RCV000172053.1, |