rs886044257
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Chromosome | 18 |
Position | 2770021 |
Gene | SMCHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs886044257 |
dbSNP (classic) | rs886044257 |
ClinGen | rs886044257 |
ebi | rs886044257 |
HLI | rs886044257 |
Exac | rs886044257 |
Gnomad | rs886044257 |
Varsome | rs886044257 |
LitVar | rs886044257 |
Map | rs886044257 |
PheGenI | rs886044257 |
Biobank | rs886044257 |
1000 genomes | rs886044257 |
hgdp | rs886044257 |
ensembl | rs886044257 |
geneview | rs886044257 |
scholar | rs886044257 |
rs886044257 | |
pharmgkb | rs886044257 |
gwascentral | rs886044257 |
openSNP | rs886044257 |
23andMe | rs886044257 |
SNPshot | rs886044257 |
SNPdbe | rs886044257 |
MSV3d | rs886044257 |
GWAS Ctlg | rs886044257 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886044257(A;A) |
Alt | rs886044257(A;A) |
Reference | Rs886044257(-;-) |
Significance | Probable-Pathogenic |
Disease | Facioscapulohumeral muscular dystrophy 2 |
Variation | info |
Gene | SMCHD1 |
CLNDBN | Facioscapulohumeral muscular dystrophy 2 |
Reversed | 0 |
HGVS | NC_000018.9:g.2770019dupA |
CLNSRC | |
CLNACC | RCV000348909.1, |