rs11575937

Orientation

plus

Stabilized

plus

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

Make rs11575937(A;A)

Make rs11575937(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

156136985

Gene

LMNA

is a	snp
is	mentioned by
dbSNP	rs11575937
dbSNP (classic)	rs11575937
ClinGen	rs11575937
ebi	rs11575937
HLI	rs11575937
Exac	rs11575937
Gnomad	rs11575937
Varsome	rs11575937
LitVar	rs11575937
Map	rs11575937
PheGenI	rs11575937
Biobank	rs11575937
1000 genomes	rs11575937
hgdp	rs11575937
ensembl	rs11575937
geneview	rs11575937
scholar	rs11575937
google	rs11575937
pharmgkb	rs11575937
gwascentral	rs11575937
openSNP	rs11575937
23andMe	rs11575937
SNPshot	rs11575937
SNPdbe	rs11575937
MSV3d	rs11575937
GWAS Ctlg	rs11575937

Max Magnitude

0

OMIM	150330
Desc
Variant	0010
Related	also

OMIM	150330
Desc
Variant	0012
Related	also

ClinVar
Risk	rs11575937(A;A) rs11575937(T;T)
Alt	rs11575937(A;A) rs11575937(T;T)
Reference	Rs11575937(G;G)
Significance	Pathogenic
Disease	Familial partial lipodystrophy 2 Primary dilated cardiomyopathy not provided Partial lipodystrophy Emery-Dreifuss muscular dystrophy 3 Charcot-Marie-Tooth disease
Variation	info
Gene	LMNA
CLNDBN	Familial partial lipodystrophy 2 Primary dilated cardiomyopathy not provided Partial lipodystrophy, Dunnigan Emery-Dreifuss muscular dystrophy 3, autosomal recessive Charcot-Marie-Tooth disease, type 2
Reversed	0
HGVS	NC_000001.10:g.156106776G>A; NC_000001.10:g.156106776G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015575.26, RCV000041318.3, RCV000057299.2, RCV000148600.1, RCV000190399.2, RCV000459624.1, RCV000015580.26, RCV000057300.1,