rs267606811
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 6.4 | Emery-Dreifuss Muscular Dystrophy |
(A;G) | 3 | Carrier of an Emery-Dreifuss muscular dystrophy mutation |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 136209392 |
Gene | FHL1 |
is a | snp |
is | mentioned by |
dbSNP | rs267606811 |
dbSNP (classic) | rs267606811 |
ClinGen | rs267606811 |
ebi | rs267606811 |
HLI | rs267606811 |
Exac | rs267606811 |
Gnomad | rs267606811 |
Varsome | rs267606811 |
LitVar | rs267606811 |
Map | rs267606811 |
PheGenI | rs267606811 |
Biobank | rs267606811 |
1000 genomes | rs267606811 |
hgdp | rs267606811 |
ensembl | rs267606811 |
geneview | rs267606811 |
scholar | rs267606811 |
rs267606811 | |
pharmgkb | rs267606811 |
gwascentral | rs267606811 |
openSNP | rs267606811 |
23andMe | rs267606811 |
SNPshot | rs267606811 |
SNPdbe | rs267606811 |
MSV3d | rs267606811 |
GWAS Ctlg | rs267606811 |
Max Magnitude | 6.4 |
ClinVar | |
---|---|
Risk | Rs267606811(A;A) |
Alt | Rs267606811(A;A) |
Reference | Rs267606811(G;G) |
Significance | Pathogenic |
Disease | Myopathy with postural muscle atrophy |
Variation | info |
Gene | FHL1 |
CLNDBN | Myopathy with postural muscle atrophy, X-linked |
Reversed | 0 |
HGVS | NC_000023.10:g.135291551G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012315.23, |