rs122458144

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	6.4	Emery-Dreifuss Muscular Dystrophy
(C;T)	3	Carrier of an Emery-Dreifuss muscular dystrophy mutation
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

X

Position

136207917

Gene

FHL1

is a	snp
is	mentioned by
dbSNP	rs122458144
dbSNP (classic)	rs122458144
ClinGen	rs122458144
ebi	rs122458144
HLI	rs122458144
Exac	rs122458144
Gnomad	rs122458144
Varsome	rs122458144
LitVar	rs122458144
Map	rs122458144
PheGenI	rs122458144
Biobank	rs122458144
1000 genomes	rs122458144
hgdp	rs122458144
ensembl	rs122458144
geneview	rs122458144
scholar	rs122458144
google	rs122458144
pharmgkb	rs122458144
gwascentral	rs122458144
openSNP	rs122458144
23andMe	rs122458144
SNPshot	rs122458144
SNPdbe	rs122458144
MSV3d	rs122458144
GWAS Ctlg	rs122458144

Max Magnitude

6.4

OMIM	300163
Desc
Variant	0006
Related	also

ClinVar
Risk	Rs122458144(C;C)
Alt	Rs122458144(C;C)
Reference	Rs122458144(T;T)
Significance	Pathogenic
Disease	Myopathy
Variation	info
Gene	FHL1
CLNDBN	Myopathy, reducing body, X-linked, childhood-onset
Reversed	0
HGVS	NC_000023.10:g.135290076T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012308.17,