rs122459148
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 6.4 | Emery-Dreifuss Muscular Dystrophy |
(G;T) | 3 | Carrier of an Emery-Dreifuss muscular dystrophy mutation |
(T;T) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 136210023 |
Gene | FHL1 |
is a | snp |
is | mentioned by |
dbSNP | rs122459148 |
dbSNP (classic) | rs122459148 |
ClinGen | rs122459148 |
ebi | rs122459148 |
HLI | rs122459148 |
Exac | rs122459148 |
Gnomad | rs122459148 |
Varsome | rs122459148 |
LitVar | rs122459148 |
Map | rs122459148 |
PheGenI | rs122459148 |
Biobank | rs122459148 |
1000 genomes | rs122459148 |
hgdp | rs122459148 |
ensembl | rs122459148 |
geneview | rs122459148 |
scholar | rs122459148 |
rs122459148 | |
pharmgkb | rs122459148 |
gwascentral | rs122459148 |
openSNP | rs122459148 |
23andMe | rs122459148 |
SNPshot | rs122459148 |
SNPdbe | rs122459148 |
MSV3d | rs122459148 |
GWAS Ctlg | rs122459148 |
Max Magnitude | 6.4 |
ClinVar | |
---|---|
Risk | Rs122459148(G;G) |
Alt | Rs122459148(G;G) |
Reference | Rs122459148(T;T) |
Significance | Pathogenic |
Disease | Emery-Dreifuss muscular dystrophy 6 |
Variation | info |
Gene | FHL1 |
CLNDBN | Emery-Dreifuss muscular dystrophy 6 |
Reversed | 0 |
HGVS | NC_000023.10:g.135292182T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012312.14, |