rs121913648
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AGA) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(AGA;AGA) | 0 | common in clinvar |
Make rs121913648(-;-) |
Make rs121913648(-;AAG) |
Make rs121913648(AAG;AAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 23416106 |
Gene | MHRT, MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs121913648 |
dbSNP (classic) | rs121913648 |
ClinGen | rs121913648 |
ebi | rs121913648 |
HLI | rs121913648 |
Exac | rs121913648 |
Gnomad | rs121913648 |
Varsome | rs121913648 |
LitVar | rs121913648 |
Map | rs121913648 |
PheGenI | rs121913648 |
Biobank | rs121913648 |
1000 genomes | rs121913648 |
hgdp | rs121913648 |
ensembl | rs121913648 |
geneview | rs121913648 |
scholar | rs121913648 |
rs121913648 | |
pharmgkb | rs121913648 |
gwascentral | rs121913648 |
openSNP | rs121913648 |
23andMe | rs121913648 |
SNPshot | rs121913648 |
SNPdbe | rs121913648 |
MSV3d | rs121913648 |
GWAS Ctlg | rs121913648 |
Merged from | Rs797044596 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs121913648(AAG;AAG) rs121913648(-;-) |
Alt | rs121913648(AAG;AAG) rs121913648(-;-) |
Reference | Rs121913648(AGA;AGA) |
Significance | Pathogenic |
Disease | Laing distal myopathy Myopathy |
Variation | info |
Gene | MYH7 MHRT |
CLNDBN | Laing distal myopathy Myopathy, distal, 1 |
Reversed | 1 |
HGVS | NC_000014.8:g.23885314_23885316delTCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015173.26, RCV000192202.1, |