rs886043182
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Chromosome | 18 |
Position | 2732454 |
Gene | SMCHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs886043182 |
dbSNP (classic) | rs886043182 |
ClinGen | rs886043182 |
ebi | rs886043182 |
HLI | rs886043182 |
Exac | rs886043182 |
Gnomad | rs886043182 |
Varsome | rs886043182 |
LitVar | rs886043182 |
Map | rs886043182 |
PheGenI | rs886043182 |
Biobank | rs886043182 |
1000 genomes | rs886043182 |
hgdp | rs886043182 |
ensembl | rs886043182 |
geneview | rs886043182 |
scholar | rs886043182 |
rs886043182 | |
pharmgkb | rs886043182 |
gwascentral | rs886043182 |
openSNP | rs886043182 |
23andMe | rs886043182 |
SNPshot | rs886043182 |
SNPdbe | rs886043182 |
MSV3d | rs886043182 |
GWAS Ctlg | rs886043182 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886043182(-;-) |
Alt | rs886043182(-;-) |
Reference | Rs886043182(AG;AG) |
Significance | Pathogenic |
Disease | Facioscapulohumeral muscular dystrophy 2 |
Variation | info |
Gene | SMCHD1 |
CLNDBN | Facioscapulohumeral muscular dystrophy 2 |
Reversed | 0 |
HGVS | NC_000018.9:g.2732452_2732453delGA |
CLNSRC | |
CLNACC | RCV000261917.1, |