rs397514044

Orientation

plus

Stabilized

plus

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

Make rs397514044(A;A)

Make rs397514044(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

14130912

Gene

TMEM43

is a	snp
is	mentioned by
dbSNP	rs397514044
dbSNP (classic)	rs397514044
ClinGen	rs397514044
ebi	rs397514044
HLI	rs397514044
Exac	rs397514044
Gnomad	rs397514044
Varsome	rs397514044
LitVar	rs397514044
Map	rs397514044
PheGenI	rs397514044
Biobank	rs397514044
1000 genomes	rs397514044
hgdp	rs397514044
ensembl	rs397514044
geneview	rs397514044
scholar	rs397514044
google	rs397514044
pharmgkb	rs397514044
gwascentral	rs397514044
openSNP	rs397514044
23andMe	rs397514044
SNPshot	rs397514044
SNPdbe	rs397514044
MSV3d	rs397514044
GWAS Ctlg	rs397514044

Max Magnitude

0

ClinVar
Risk	rs397514044(A;A)
Alt	rs397514044(A;A)
Reference	Rs397514044(G;G)
Significance	Pathogenic
Disease	Emery-Dreifuss muscular dystrophy 7
Variation	info
Gene	TMEM43
CLNDBN	Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Reversed	0
HGVS	NC_000003.11:g.14172412G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033854.3,