rs886044419
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Chromosome | 18 |
Position | 2770040 |
Gene | SMCHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs886044419 |
dbSNP (classic) | rs886044419 |
ClinGen | rs886044419 |
ebi | rs886044419 |
HLI | rs886044419 |
Exac | rs886044419 |
Gnomad | rs886044419 |
Varsome | rs886044419 |
LitVar | rs886044419 |
Map | rs886044419 |
PheGenI | rs886044419 |
Biobank | rs886044419 |
1000 genomes | rs886044419 |
hgdp | rs886044419 |
ensembl | rs886044419 |
geneview | rs886044419 |
scholar | rs886044419 |
rs886044419 | |
pharmgkb | rs886044419 |
gwascentral | rs886044419 |
openSNP | rs886044419 |
23andMe | rs886044419 |
SNPshot | rs886044419 |
SNPdbe | rs886044419 |
MSV3d | rs886044419 |
GWAS Ctlg | rs886044419 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886044419(G;G) |
Alt | rs886044419(G;G) |
Reference | Rs886044419(T;T) |
Significance | Pathogenic |
Disease | Facioscapulohumeral muscular dystrophy 2 |
Variation | info |
Gene | SMCHD1 |
CLNDBN | Facioscapulohumeral muscular dystrophy 2 |
Reversed | 0 |
HGVS | NC_000018.9:g.2770038T>G |
CLNSRC | |
CLNACC | RCV000360711.1, |