rs122459149

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

136208578

Gene

FHL1

is a	snp
is	mentioned by
dbSNP	rs122459149
dbSNP (classic)	rs122459149
ClinGen	rs122459149
ebi	rs122459149
HLI	rs122459149
Exac	rs122459149
Gnomad	rs122459149
Varsome	rs122459149
LitVar	rs122459149
Map	rs122459149
PheGenI	rs122459149
Biobank	rs122459149
1000 genomes	rs122459149
hgdp	rs122459149
ensembl	rs122459149
geneview	rs122459149
scholar	rs122459149
google	rs122459149
pharmgkb	rs122459149
gwascentral	rs122459149
openSNP	rs122459149
23andMe	rs122459149
SNPshot	rs122459149
SNPdbe	rs122459149
MSV3d	rs122459149
GWAS Ctlg	rs122459149

Max Magnitude

6.4

OMIM	300163
Desc
Variant	0011
Related	also

ClinVar
Risk	Rs122459149(C;C)
Alt	Rs122459149(C;C)
Reference	Rs122459149(T;T)
Significance	Pathogenic
Disease	Emery-Dreifuss muscular dystrophy 6
Variation	info
Gene	FHL1
CLNDBN	Emery-Dreifuss muscular dystrophy 6
Reversed	0
HGVS	NC_000023.10:g.135290737T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012313.13,