rs36212066
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGCCTGGATGGCTTCCCTCCCTCTC;AGCCTGGATGGCTTCCCTCCCTCTC) | 0 | common in complete genomics |
(D;D) | 4 | Hypertrophic Cardiomyopathy |
(D;I) | 3 | Hypertrophic Cardiomyopathy carrier |
(I;I) | 0 |
Make rs36212066(-;-) |
Make rs36212066(-;AGCCTGGATGGCTTCCCTCCCTCTC) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 47332275 |
Gene | MYBPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs36212066 |
dbSNP (classic) | rs36212066 |
ClinGen | rs36212066 |
ebi | rs36212066 |
HLI | rs36212066 |
Exac | rs36212066 |
Gnomad | rs36212066 |
Varsome | rs36212066 |
LitVar | rs36212066 |
Map | rs36212066 |
PheGenI | rs36212066 |
Biobank | rs36212066 |
1000 genomes | rs36212066 |
hgdp | rs36212066 |
ensembl | rs36212066 |
geneview | rs36212066 |
scholar | rs36212066 |
rs36212066 | |
pharmgkb | rs36212066 |
gwascentral | rs36212066 |
openSNP | rs36212066 |
23andMe | rs36212066 |
SNPshot | rs36212066 |
SNPdbe | rs36212066 |
MSV3d | rs36212066 |
GWAS Ctlg | rs36212066 |
Max Magnitude | 4 |
https://www.23andme.com/you/journal/hypertrophic_cardiomyopathy/techreport/
ClinVar | |
---|---|
Risk | rs36212066(-;-) |
Alt | rs36212066(-;-) |
Reference | Rs36212066(AGCCTGGATGGCTTCCCTCCCTCTC;AGCCTGGATGGCTTCCCTCCCTCTC) |
Significance | Probable-Pathogenic |
Disease | not specified Primary familial hypertrophic cardiomyopathy |
Variation | info |
Gene | MYBPC3 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000011.9:g.47353826_47353850del25 |
CLNSRC | |
CLNACC | RCV000158391.3, RCV000211730.2, |