rs122458142

Orientation

plus

Stabilized

plus

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

136207827

Gene

FHL1

is a	snp
is	mentioned by
dbSNP	rs122458142
dbSNP (classic)	rs122458142
ClinGen	rs122458142
ebi	rs122458142
HLI	rs122458142
Exac	rs122458142
Gnomad	rs122458142
Varsome	rs122458142
LitVar	rs122458142
Map	rs122458142
PheGenI	rs122458142
Biobank	rs122458142
1000 genomes	rs122458142
hgdp	rs122458142
ensembl	rs122458142
geneview	rs122458142
scholar	rs122458142
google	rs122458142
pharmgkb	rs122458142
gwascentral	rs122458142
openSNP	rs122458142
23andMe	rs122458142
SNPshot	rs122458142
SNPdbe	rs122458142
MSV3d	rs122458142
GWAS Ctlg	rs122458142

Max Magnitude

6.4

OMIM	300163
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs122458142(T;T)
Alt	Rs122458142(T;T)
Reference	Rs122458142(C;C)
Significance	Pathogenic
Disease	Myopathy
Variation	info
Gene	FHL1
CLNDBN	Myopathy, reducing body, X-linked, early-onset, severe
Reversed	0
HGVS	NC_000023.10:g.135289986C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012306.23,