rs122458143

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;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

136207855

Gene

FHL1

is a	snp
is	mentioned by
dbSNP	rs122458143
dbSNP (classic)	rs122458143
ClinGen	rs122458143
ebi	rs122458143
HLI	rs122458143
Exac	rs122458143
Gnomad	rs122458143
Varsome	rs122458143
LitVar	rs122458143
Map	rs122458143
PheGenI	rs122458143
Biobank	rs122458143
1000 genomes	rs122458143
hgdp	rs122458143
ensembl	rs122458143
geneview	rs122458143
scholar	rs122458143
google	rs122458143
pharmgkb	rs122458143
gwascentral	rs122458143
openSNP	rs122458143
23andMe	rs122458143
SNPshot	rs122458143
SNPdbe	rs122458143
MSV3d	rs122458143
GWAS Ctlg	rs122458143

Max Magnitude

6.4

OMIM	300163
Desc
Variant	0005
Related	also

ClinVar
Risk	Rs122458143(T;T)
Alt	Rs122458143(T;T)
Reference	Rs122458143(G;G)
Significance	Pathogenic
Disease	Myopathy
Variation	info
Gene	FHL1
CLNDBN	Myopathy, reducing body, X-linked, early-onset, severe
Reversed	0
HGVS	NC_000023.10:g.135290014G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012307.13,