rs199474707
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199474707(A;A) |
Make rs199474707(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 46859490 |
Gene | MYL3 |
is a | snp |
is | mentioned by |
dbSNP | rs199474707 |
dbSNP (classic) | rs199474707 |
ClinGen | rs199474707 |
ebi | rs199474707 |
HLI | rs199474707 |
Exac | rs199474707 |
Gnomad | rs199474707 |
Varsome | rs199474707 |
LitVar | rs199474707 |
Map | rs199474707 |
PheGenI | rs199474707 |
Biobank | rs199474707 |
1000 genomes | rs199474707 |
hgdp | rs199474707 |
ensembl | rs199474707 |
geneview | rs199474707 |
scholar | rs199474707 |
rs199474707 | |
pharmgkb | rs199474707 |
gwascentral | rs199474707 |
openSNP | rs199474707 |
23andMe | rs199474707 |
SNPshot | rs199474707 |
SNPdbe | rs199474707 |
MSV3d | rs199474707 |
GWAS Ctlg | rs199474707 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199474707(A;A) rs199474707(T;T) |
Alt | rs199474707(A;A) rs199474707(T;T) |
Reference | Rs199474707(G;G) |
Significance | Untested |
Disease | not specified Familial hypertrophic cardiomyopathy 8 not provided Increased left ventricular wall thickness Hypertrophic cardiomyopathy |
Variation | info |
Gene | MYL3 |
CLNDBN | not specified Familial hypertrophic cardiomyopathy 8 not provided Increased left ventricular wall thickness Hypertrophic cardiomyopathy |
Reversed | 1 |
HGVS | NC_000003.11:g.46900980C>A; NC_000003.11:g.46900980C>T |
CLNSRC | Leiden Muscular Dystrophy pages (MYL3) |
CLNACC | RCV000154477.4, RCV000201472.1, RCV000024469.3, RCV000036026.3, RCV000148717.1, RCV000196294.1, |