rs28928902

Orientation

plus

Stabilized

plus

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

Make rs28928902(C;T)

Make rs28928902(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

156136951

Gene

LMNA

is a	snp
is	mentioned by
dbSNP	rs28928902
dbSNP (classic)	rs28928902
ClinGen	rs28928902
ebi	rs28928902
HLI	rs28928902
Exac	rs28928902
Gnomad	rs28928902
Varsome	rs28928902
LitVar	rs28928902
Map	rs28928902
PheGenI	rs28928902
Biobank	rs28928902
1000 genomes	rs28928902
hgdp	rs28928902
ensembl	rs28928902
geneview	rs28928902
scholar	rs28928902
google	rs28928902
pharmgkb	rs28928902
gwascentral	rs28928902
openSNP	rs28928902
23andMe	rs28928902
SNPshot	rs28928902
SNPdbe	rs28928902
MSV3d	rs28928902
GWAS Ctlg	rs28928902

Max Magnitude

0

OMIM	150330
Desc	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
Variant	0025
Related	also

ClinVar
Risk	rs28928902(G;G) rs28928902(T;T)
Alt	rs28928902(G;G) rs28928902(T;T)
Reference	Rs28928902(C;C)
Significance	Pathogenic
Disease	not provided Mandibuloacral dysplasia with type A lipodystrophy Charcot-Marie-Tooth disease
Variation	info
Gene	LMNA
CLNDBN	not provided Mandibuloacral dysplasia with type A lipodystrophy, atypical Charcot-Marie-Tooth disease
Reversed	0
HGVS	NC_000001.10:g.156106742C>G; NC_000001.10:g.156106742C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000057292.1, RCV000015597.26, RCV000057293.1, RCV000192239.1,