rs387907074
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387907074(C;T) |
Make rs387907074(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 127339214 |
Gene | MEGF10 |
is a | snp |
is | mentioned by |
dbSNP | rs387907074 |
dbSNP (classic) | rs387907074 |
ClinGen | rs387907074 |
ebi | rs387907074 |
HLI | rs387907074 |
Exac | rs387907074 |
Gnomad | rs387907074 |
Varsome | rs387907074 |
LitVar | rs387907074 |
Map | rs387907074 |
PheGenI | rs387907074 |
Biobank | rs387907074 |
1000 genomes | rs387907074 |
hgdp | rs387907074 |
ensembl | rs387907074 |
geneview | rs387907074 |
scholar | rs387907074 |
rs387907074 | |
pharmgkb | rs387907074 |
gwascentral | rs387907074 |
openSNP | rs387907074 |
23andMe | rs387907074 |
SNPshot | rs387907074 |
SNPdbe | rs387907074 |
MSV3d | rs387907074 |
GWAS Ctlg | rs387907074 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907074(T;T) |
Alt | rs387907074(T;T) |
Reference | Rs387907074(C;C) |
Significance | Pathogenic |
Disease | Myopathy |
Variation | info |
Gene | MEGF10 |
CLNDBN | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant |
Reversed | 0 |
HGVS | NC_000005.9:g.126674906C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023958.4, |