rs398123157
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of an Emery-Dreifuss Muscular Dystrophy mutation |
(T;T) | 6.4 | Emery-Dreifuss Muscular Dystrophy |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154380323 |
Gene | EMD |
is a | snp |
is | mentioned by |
dbSNP | rs398123157 |
dbSNP (classic) | rs398123157 |
ClinGen | rs398123157 |
ebi | rs398123157 |
HLI | rs398123157 |
Exac | rs398123157 |
Gnomad | rs398123157 |
Varsome | rs398123157 |
LitVar | rs398123157 |
Map | rs398123157 |
PheGenI | rs398123157 |
Biobank | rs398123157 |
1000 genomes | rs398123157 |
hgdp | rs398123157 |
ensembl | rs398123157 |
geneview | rs398123157 |
scholar | rs398123157 |
rs398123157 | |
pharmgkb | rs398123157 |
gwascentral | rs398123157 |
openSNP | rs398123157 |
23andMe | rs398123157 |
SNPshot | rs398123157 |
SNPdbe | rs398123157 |
MSV3d | rs398123157 |
GWAS Ctlg | rs398123157 |
Max Magnitude | 6.4 |
ClinVar | |
---|---|
Risk | rs398123157(A;A) Rs398123157(T;T) |
Alt | rs398123157(A;A) Rs398123157(T;T) |
Reference | Rs398123157(C;C) |
Significance | Pathogenic |
Disease | not specified not provided |
Variation | info |
Gene | EMD |
CLNDBN | not specified not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.153608683C>A; NC_000023.10:g.153608683C>T |
CLNSRC | ClinVar Emory University |
CLNACC | RCV000485703.1, RCV000078131.4, |