rs149339264

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;C)	6.2	Dilated cardiomyopathy
(C;C)	0	common in clinvar

Make rs149339264(C;T)

Make rs149339264(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

1

Position

156137190

Gene

LMNA

is a	snp
is	mentioned by
dbSNP	rs149339264
dbSNP (classic)	rs149339264
ClinGen	rs149339264
ebi	rs149339264
HLI	rs149339264
Exac	rs149339264
Gnomad	rs149339264
Varsome	rs149339264
LitVar	rs149339264
Map	rs149339264
PheGenI	rs149339264
Biobank	rs149339264
1000 genomes	rs149339264
hgdp	rs149339264
ensembl	rs149339264
geneview	rs149339264
scholar	rs149339264
google	rs149339264
pharmgkb	rs149339264
gwascentral	rs149339264
openSNP	rs149339264
23andMe	rs149339264
SNPshot	rs149339264
SNPdbe	rs149339264
MSV3d	rs149339264
GWAS Ctlg	rs149339264

Max Magnitude

6.2

ClinVar
Risk	rs149339264(A;A) rs149339264(T;T)
Alt	rs149339264(A;A) rs149339264(T;T)
Reference	Rs149339264(C;C)
Significance	Other
Disease	Cardiovascular phenotype not specified Charcot-Marie-Tooth disease Dilated Cardiomyopathy Hutchinson-Gilford syndrome Emery-Dreifuss muscular dystrophy Familial partial lipodystrophy Limb-Girdle Muscular Dystrophy Mandibuloacral dysplasia Lipoatrophy with Diabetes Congenital muscular dystrophy Charcot-Marie-Tooth Lethal tight skin contracture syndrome
Variation	info
Gene	LMNA
CLNDBN	Cardiovascular phenotype not specified Charcot-Marie-Tooth disease, type 2 Dilated Cardiomyopathy, Dominant Hutchinson-Gilford syndrome Emery-Dreifuss muscular dystrophy Familial partial lipodystrophy Limb-Girdle Muscular Dystrophy, Recessive Mandibuloacral dysplasia Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Congenital muscular dystrophy, LMNA-related Charcot-Marie-Tooth, Type 2 Lethal tight skin contracture syndrome
Reversed	0
HGVS	NC_000001.10:g.156106981C>A; NC_000001.10:g.156106981C>T
CLNSRC	Illumina
CLNACC	RCV000250959.1, RCV000041322.4, RCV000233927.1, RCV000242680.1, RCV000262946.1, RCV000285909.1, RCV000289458.1, RCV000320484.1, RCV000337260.1, RCV000340752.1, RCV000377490.1, RCV000380292.1, RCV000391138.1, RCV000399953.1,