rs58912633

Orientation

plus

Stabilized

plus

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

Make rs58912633(C;T)

Make rs58912633(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

156130688

Gene

LMNA

is a	snp
is	mentioned by
dbSNP	rs58912633
dbSNP (classic)	rs58912633
ClinGen	rs58912633
ebi	rs58912633
HLI	rs58912633
Exac	rs58912633
Gnomad	rs58912633
Varsome	rs58912633
LitVar	rs58912633
Map	rs58912633
PheGenI	rs58912633
Biobank	rs58912633
1000 genomes	rs58912633
hgdp	rs58912633
ensembl	rs58912633
geneview	rs58912633
scholar	rs58912633
google	rs58912633
pharmgkb	rs58912633
gwascentral	rs58912633
openSNP	rs58912633
23andMe	rs58912633
SNPshot	rs58912633
SNPdbe	rs58912633
MSV3d	rs58912633
GWAS Ctlg	rs58912633

Max Magnitude

0

OMIM	150330
Desc
Variant	0034
Related	also

ClinVar
Risk	rs58912633(T;T)
Alt	rs58912633(T;T)
Reference	Rs58912633(C;C)
Significance	Pathogenic
Disease	Congenital muscular dystrophy not provided
Variation	info
Gene	LMNA
CLNDBN	Congenital muscular dystrophy, LMNA-related not provided
Reversed	0
HGVS	NC_000001.10:g.156100479C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015604.25, RCV000057405.1,