rs797044596
From SNPedia
Merged into | rs121913648 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGA;AGA) | 0 | common in clinvar |
Make rs797044596(-;-) |
Make rs797044596(-;AGA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 23416105 |
Gene | MHRT, MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs797044596 |
dbSNP (classic) | rs797044596 |
ClinGen | rs797044596 |
ebi | rs797044596 |
HLI | rs797044596 |
Exac | rs797044596 |
Gnomad | rs797044596 |
Varsome | rs797044596 |
LitVar | rs797044596 |
Map | rs797044596 |
PheGenI | rs797044596 |
Biobank | rs797044596 |
1000 genomes | rs797044596 |
hgdp | rs797044596 |
ensembl | rs797044596 |
geneview | rs797044596 |
scholar | rs797044596 |
rs797044596 | |
pharmgkb | rs797044596 |
gwascentral | rs797044596 |
openSNP | rs797044596 |
23andMe | rs797044596 |
SNPshot | rs797044596 |
SNPdbe | rs797044596 |
MSV3d | rs797044596 |
GWAS Ctlg | rs797044596 |
Status | Merged into rs121913648 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs797044596(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, |