rs786200914

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.p2 38.2/146

Chromosome

X

Position

136208642

Gene

FHL1

is a	snp
is	mentioned by
dbSNP	rs786200914
dbSNP (classic)	rs786200914
ClinGen	rs786200914
ebi	rs786200914
HLI	rs786200914
Exac	rs786200914
Gnomad	rs786200914
Varsome	rs786200914
LitVar	rs786200914
Map	rs786200914
PheGenI	rs786200914
Biobank	rs786200914
1000 genomes	rs786200914
hgdp	rs786200914
ensembl	rs786200914
geneview	rs786200914
scholar	rs786200914
google	rs786200914
pharmgkb	rs786200914
gwascentral	rs786200914
openSNP	rs786200914
23andMe	rs786200914
SNPshot	rs786200914
SNPdbe	rs786200914
MSV3d	rs786200914
GWAS Ctlg	rs786200914

Max Magnitude

6.4

ClinVar
Risk	Rs786200914(A;A)
Alt	Rs786200914(A;A)
Reference	Rs786200914(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.135290801G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012316.27,