rs483352811

Orientation

plus

Stabilized

plus

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

Make rs483352811(A;A)

Make rs483352811(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

156137665

Gene

LMNA

is a	snp
is	mentioned by
dbSNP	rs483352811
dbSNP (classic)	rs483352811
ClinGen	rs483352811
ebi	rs483352811
HLI	rs483352811
Exac	rs483352811
Gnomad	rs483352811
Varsome	rs483352811
LitVar	rs483352811
Map	rs483352811
PheGenI	rs483352811
Biobank	rs483352811
1000 genomes	rs483352811
hgdp	rs483352811
ensembl	rs483352811
geneview	rs483352811
scholar	rs483352811
google	rs483352811
pharmgkb	rs483352811
gwascentral	rs483352811
openSNP	rs483352811
23andMe	rs483352811
SNPshot	rs483352811
SNPdbe	rs483352811
MSV3d	rs483352811
GWAS Ctlg	rs483352811

Max Magnitude

0

ClinVar
Risk	rs483352811(A;A)
Alt	rs483352811(A;A)
Reference	Rs483352811(G;G)
Significance	Pathogenic
Disease	Mandibuloacral dysplasia with type A lipodystrophy
Variation	info
Gene	LMNA
CLNDBN	Mandibuloacral dysplasia with type A lipodystrophy
Reversed	0
HGVS	NC_000001.10:g.156107456G>A
CLNSRC	Shahid Beheshti University of Medical Sciences
CLNACC	RCV000087081.2,