rs879255254
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs879255254(-;-) |
Make rs879255254(-;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 10533326 |
Gene | MYHAS, MYH2 |
is a | snp |
is | mentioned by |
dbSNP | rs879255254 |
dbSNP (classic) | rs879255254 |
ClinGen | rs879255254 |
ebi | rs879255254 |
HLI | rs879255254 |
Exac | rs879255254 |
Gnomad | rs879255254 |
Varsome | rs879255254 |
LitVar | rs879255254 |
Map | rs879255254 |
PheGenI | rs879255254 |
Biobank | rs879255254 |
1000 genomes | rs879255254 |
hgdp | rs879255254 |
ensembl | rs879255254 |
geneview | rs879255254 |
scholar | rs879255254 |
rs879255254 | |
pharmgkb | rs879255254 |
gwascentral | rs879255254 |
openSNP | rs879255254 |
23andMe | rs879255254 |
SNPshot | rs879255254 |
SNPdbe | rs879255254 |
MSV3d | rs879255254 |
GWAS Ctlg | rs879255254 |
Max Magnitude | 0 |
MYH2 c.2400delG
ClinVar | |
---|---|
Risk | rs879255254(-;-) |
Alt | rs879255254(-;-) |
Reference | Rs879255254(G;G) |
Significance | Pathogenic |
Disease | Inclusion body myopathy 3 |
Variation | info |
Gene | MYH2 MYHAS |
CLNDBN | Inclusion body myopathy 3 |
Reversed | 1 |
HGVS | NC_000017.10:g.10436643delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000162322.2, |