rs387906419
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387906419(A;A) |
Make rs387906419(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 7497 |
is a | snp |
is | mentioned by |
dbSNP | rs387906419 |
dbSNP (classic) | rs387906419 |
ClinGen | rs387906419 |
ebi | rs387906419 |
HLI | rs387906419 |
Exac | rs387906419 |
Gnomad | rs387906419 |
Varsome | rs387906419 |
LitVar | rs387906419 |
Map | rs387906419 |
PheGenI | rs387906419 |
Biobank | rs387906419 |
1000 genomes | rs387906419 |
hgdp | rs387906419 |
ensembl | rs387906419 |
geneview | rs387906419 |
scholar | rs387906419 |
rs387906419 | |
pharmgkb | rs387906419 |
gwascentral | rs387906419 |
openSNP | rs387906419 |
23andMe | rs387906419 |
SNPshot | rs387906419 |
SNPdbe | rs387906419 |
MSV3d | rs387906419 |
GWAS Ctlg | rs387906419 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906419(A;A) |
Alt | rs387906419(A;A) |
Reference | Rs387906419(G;G) |
Significance | Pathogenic |
Disease | Exercise intolerance |
Variation | info |
Gene | |
CLNDBN | Exercise intolerance, muscle pain, and lactic acidemia |
Reversed | 0 |
HGVS | NC_012920.1:m.7497G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010182.2, |