rs144811578

Orientation

plus

Stabilized

plus

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

Make rs144811578(A;G)

Make rs144811578(G;G)

Reference

GRCh38 38.1/142

Chromosome

3

Position

14130930

Gene

TMEM43

is a	snp
is	mentioned by
dbSNP	rs144811578
dbSNP (classic)	rs144811578
ClinGen	rs144811578
ebi	rs144811578
HLI	rs144811578
Exac	rs144811578
Gnomad	rs144811578
Varsome	rs144811578
LitVar	rs144811578
Map	rs144811578
PheGenI	rs144811578
Biobank	rs144811578
1000 genomes	rs144811578
hgdp	rs144811578
ensembl	rs144811578
geneview	rs144811578
scholar	rs144811578
google	rs144811578
pharmgkb	rs144811578
gwascentral	rs144811578
openSNP	rs144811578
23andMe	rs144811578
SNPshot	rs144811578
SNPdbe	rs144811578
MSV3d	rs144811578
GWAS Ctlg	rs144811578

Max Magnitude

0

ClinVar
Risk	rs144811578(G;G)
Alt	rs144811578(G;G)
Reference	Rs144811578(A;A)
Significance	Pathogenic
Disease	Emery-Dreifuss muscular dystrophy 7 not specified
Variation	info
Gene	TMEM43
CLNDBN	Emery-Dreifuss muscular dystrophy 7, autosomal dominant not specified
Reversed	0
HGVS	NC_000003.11:g.14172430A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033855.3, RCV000183950.4,