rs122459148

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

136210023

Gene

FHL1

is a	snp
is	mentioned by
dbSNP	rs122459148
dbSNP (classic)	rs122459148
ClinGen	rs122459148
ebi	rs122459148
HLI	rs122459148
Exac	rs122459148
Gnomad	rs122459148
Varsome	rs122459148
LitVar	rs122459148
Map	rs122459148
PheGenI	rs122459148
Biobank	rs122459148
1000 genomes	rs122459148
hgdp	rs122459148
ensembl	rs122459148
geneview	rs122459148
scholar	rs122459148
google	rs122459148
pharmgkb	rs122459148
gwascentral	rs122459148
openSNP	rs122459148
23andMe	rs122459148
SNPshot	rs122459148
SNPdbe	rs122459148
MSV3d	rs122459148
GWAS Ctlg	rs122459148

Max Magnitude

6.4

OMIM	300163
Desc
Variant	0010
Related	also

ClinVar
Risk	Rs122459148(G;G)
Alt	Rs122459148(G;G)
Reference	Rs122459148(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.135292182T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012312.14,