rs397516002
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397516002(C;G) |
Make rs397516002(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 47333664 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs397516002 |
dbSNP (classic) | rs397516002 |
ClinGen | rs397516002 |
ebi | rs397516002 |
HLI | rs397516002 |
Exac | rs397516002 |
Gnomad | rs397516002 |
Varsome | rs397516002 |
LitVar | rs397516002 |
Map | rs397516002 |
PheGenI | rs397516002 |
Biobank | rs397516002 |
1000 genomes | rs397516002 |
hgdp | rs397516002 |
ensembl | rs397516002 |
geneview | rs397516002 |
scholar | rs397516002 |
rs397516002 | |
pharmgkb | rs397516002 |
gwascentral | rs397516002 |
openSNP | rs397516002 |
23andMe | rs397516002 |
SNPshot | rs397516002 |
SNPdbe | rs397516002 |
MSV3d | rs397516002 |
GWAS Ctlg | rs397516002 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516002(G;G) rs397516002(T;T) |
Alt | rs397516002(G;G) rs397516002(T;T) |
Reference | Rs397516002(C;C) |
Significance | Pathogenic |
Disease | not specified |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not specified |
Reversed | 1 |
HGVS | NC_000011.9:g.47355215G>A; NC_000011.9:g.47355215G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000151077.2, RCV000035557.2, |