rs143852164
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs143852164(A;A) |
Make rs143852164(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 46859496 |
Gene | MYL3 |
is a | snp |
is | mentioned by |
dbSNP | rs143852164 |
dbSNP (classic) | rs143852164 |
ClinGen | rs143852164 |
ebi | rs143852164 |
HLI | rs143852164 |
Exac | rs143852164 |
Gnomad | rs143852164 |
Varsome | rs143852164 |
LitVar | rs143852164 |
Map | rs143852164 |
PheGenI | rs143852164 |
Biobank | rs143852164 |
1000 genomes | rs143852164 |
hgdp | rs143852164 |
ensembl | rs143852164 |
geneview | rs143852164 |
scholar | rs143852164 |
rs143852164 | |
pharmgkb | rs143852164 |
gwascentral | rs143852164 |
openSNP | rs143852164 |
23andMe | rs143852164 |
SNPshot | rs143852164 |
SNPdbe | rs143852164 |
MSV3d | rs143852164 |
GWAS Ctlg | rs143852164 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs143852164(A;A) |
Alt | rs143852164(A;A) |
Reference | Rs143852164(G;G) |
Significance | Pathogenic |
Disease | not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYL3 |
CLNDBN | not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy |
Reversed | 0 |
HGVS | NC_000003.11:g.46900986G>A |
CLNSRC | |
CLNACC | RCV000036024.3, RCV000148718.1, RCV000231173.2, |