rs60864230

Orientation

plus

Stabilized

plus

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

Make rs60864230(G;T)

Make rs60864230(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

156130658

Gene

LMNA

is a	snp
is	mentioned by
dbSNP	rs60864230
dbSNP (classic)	rs60864230
ClinGen	rs60864230
ebi	rs60864230
HLI	rs60864230
Exac	rs60864230
Gnomad	rs60864230
Varsome	rs60864230
LitVar	rs60864230
Map	rs60864230
PheGenI	rs60864230
Biobank	rs60864230
1000 genomes	rs60864230
hgdp	rs60864230
ensembl	rs60864230
geneview	rs60864230
scholar	rs60864230
google	rs60864230
pharmgkb	rs60864230
gwascentral	rs60864230
openSNP	rs60864230
23andMe	rs60864230
SNPshot	rs60864230
SNPdbe	rs60864230
MSV3d	rs60864230
GWAS Ctlg	rs60864230

Max Magnitude

0

OMIM	150330
Desc
Variant	0027
Related	also

OMIM	150330
Desc
Variant	0032
Related	also

ClinVar
Risk	rs60864230(A;A) rs60864230(C;C) rs60864230(T;T)
Alt	rs60864230(A;A) rs60864230(C;C) rs60864230(T;T)
Reference	Rs60864230(G;G)
Significance	Pathogenic
Disease	not provided Charcot-Marie-Tooth disease Benign scapuloperoneal muscular dystrophy with cardiomyopathy Familial partial lipodystrophy 2 Hutchinson-Gilford progeria syndrome Charcot-Marie-Tooth disease
Variation	info
Gene	LMNA
CLNDBN	not provided Charcot-Marie-Tooth disease, type 2 Benign scapuloperoneal muscular dystrophy with cardiomyopathy Familial partial lipodystrophy 2 Hutchinson-Gilford progeria syndrome, childhood-onset Charcot-Marie-Tooth disease
Reversed	0
HGVS	NC_000001.10:g.156100449G>A; NC_000001.10:g.156100449G>C; NC_000001.10:g.156100449G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000182356.4, RCV000204542.1, RCV000015602.25, RCV000057398.1, RCV000015577.29, RCV000015578.29, RCV000057399.1, RCV000192237.1,