rs1057519570
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1057519570(-;-) |
Make rs1057519570(-;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 68174095 |
Gene | MYPN |
is a | snp |
is | mentioned by |
dbSNP | rs1057519570 |
dbSNP (classic) | rs1057519570 |
ClinGen | rs1057519570 |
ebi | rs1057519570 |
HLI | rs1057519570 |
Exac | rs1057519570 |
Gnomad | rs1057519570 |
Varsome | rs1057519570 |
LitVar | rs1057519570 |
Map | rs1057519570 |
PheGenI | rs1057519570 |
Biobank | rs1057519570 |
1000 genomes | rs1057519570 |
hgdp | rs1057519570 |
ensembl | rs1057519570 |
geneview | rs1057519570 |
scholar | rs1057519570 |
rs1057519570 | |
pharmgkb | rs1057519570 |
gwascentral | rs1057519570 |
openSNP | rs1057519570 |
23andMe | rs1057519570 |
SNPshot | rs1057519570 |
SNPdbe | rs1057519570 |
MSV3d | rs1057519570 |
GWAS Ctlg | rs1057519570 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519570(-;-) |
Alt | rs1057519570(-;-) |
Reference | Rs1057519570(A;A) |
Significance | Pathogenic |
Disease | Nemaline myopathy 11 |
Variation | info |
Gene | MYPN |
CLNDBN | Nemaline myopathy 11, autosomal recessive |
Reversed | 0 |
HGVS | NC_000010.10:g.69933852delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000417052.1, |