rs267606811

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

136209392

Gene

FHL1

is a	snp
is	mentioned by
dbSNP	rs267606811
dbSNP (classic)	rs267606811
ClinGen	rs267606811
ebi	rs267606811
HLI	rs267606811
Exac	rs267606811
Gnomad	rs267606811
Varsome	rs267606811
LitVar	rs267606811
Map	rs267606811
PheGenI	rs267606811
Biobank	rs267606811
1000 genomes	rs267606811
hgdp	rs267606811
ensembl	rs267606811
geneview	rs267606811
scholar	rs267606811
google	rs267606811
pharmgkb	rs267606811
gwascentral	rs267606811
openSNP	rs267606811
23andMe	rs267606811
SNPshot	rs267606811
SNPdbe	rs267606811
MSV3d	rs267606811
GWAS Ctlg	rs267606811

Max Magnitude

6.4

ClinVar
Risk	Rs267606811(A;A)
Alt	Rs267606811(A;A)
Reference	Rs267606811(G;G)
Significance	Pathogenic
Disease	Myopathy with postural muscle atrophy
Variation	info
Gene	FHL1
CLNDBN	Myopathy with postural muscle atrophy, X-linked
Reversed	0
HGVS	NC_000023.10:g.135291551G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012315.23,