rs57318642

Orientation

plus

Stabilized

plus

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

Make rs57318642(C;T)

Make rs57318642(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

156137203

Gene

LMNA

is a	snp
is	mentioned by
dbSNP	rs57318642
dbSNP (classic)	rs57318642
ClinGen	rs57318642
ebi	rs57318642
HLI	rs57318642
Exac	rs57318642
Gnomad	rs57318642
Varsome	rs57318642
LitVar	rs57318642
Map	rs57318642
PheGenI	rs57318642
Biobank	rs57318642
1000 genomes	rs57318642
hgdp	rs57318642
ensembl	rs57318642
geneview	rs57318642
scholar	rs57318642
google	rs57318642
pharmgkb	rs57318642
gwascentral	rs57318642
openSNP	rs57318642
23andMe	rs57318642
SNPshot	rs57318642
SNPdbe	rs57318642
MSV3d	rs57318642
GWAS Ctlg	rs57318642

Max Magnitude

0

OMIM	150330
Desc
Variant	0026
Related	also

ClinVar
Risk	rs57318642(T;T)
Alt	rs57318642(T;T)
Reference	Rs57318642(C;C)
Significance	Pathogenic
Disease	Mandibuloacral dysostosis not provided Hutchinson-Gilford syndrome Charcot-Marie-Tooth disease
Variation	info
Gene	LMNA
CLNDBN	Mandibuloacral dysostosis not provided Hutchinson-Gilford syndrome Charcot-Marie-Tooth disease
Reversed	0
HGVS	NC_000001.10:g.156106994C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015576.24, RCV000057324.1, RCV000192011.2, RCV000192240.1,