rs267606812
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;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 | 136207828 |
Gene | FHL1 |
is a | snp |
is | mentioned by |
dbSNP | rs267606812 |
dbSNP (classic) | rs267606812 |
ClinGen | rs267606812 |
ebi | rs267606812 |
HLI | rs267606812 |
Exac | rs267606812 |
Gnomad | rs267606812 |
Varsome | rs267606812 |
LitVar | rs267606812 |
Map | rs267606812 |
PheGenI | rs267606812 |
Biobank | rs267606812 |
1000 genomes | rs267606812 |
hgdp | rs267606812 |
ensembl | rs267606812 |
geneview | rs267606812 |
scholar | rs267606812 |
rs267606812 | |
pharmgkb | rs267606812 |
gwascentral | rs267606812 |
openSNP | rs267606812 |
23andMe | rs267606812 |
SNPshot | rs267606812 |
SNPdbe | rs267606812 |
MSV3d | rs267606812 |
GWAS Ctlg | rs267606812 |
Max Magnitude | 6.4 |
ClinVar | |
---|---|
Risk | Rs267606812(T;T) |
Alt | Rs267606812(T;T) |
Reference | Rs267606812(A;A) |
Significance | Pathogenic |
Disease | Myopathy |
Variation | info |
Gene | FHL1 |
CLNDBN | Myopathy, reducing body, X-linked, early-onset, severe |
Reversed | 0 |
HGVS | NC_000023.10:g.135289987A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012317.16, |