rs1057518971

Orientation

plus

Stabilized

plus

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

Make rs1057518971(G;T)

Make rs1057518971(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

156115048

Gene

LMNA

is a	snp
is	mentioned by
dbSNP	rs1057518971
dbSNP (classic)	rs1057518971
ClinGen	rs1057518971
ebi	rs1057518971
HLI	rs1057518971
Exac	rs1057518971
Gnomad	rs1057518971
Varsome	rs1057518971
LitVar	rs1057518971
Map	rs1057518971
PheGenI	rs1057518971
Biobank	rs1057518971
1000 genomes	rs1057518971
hgdp	rs1057518971
ensembl	rs1057518971
geneview	rs1057518971
scholar	rs1057518971
google	rs1057518971
pharmgkb	rs1057518971
gwascentral	rs1057518971
openSNP	rs1057518971
23andMe	rs1057518971
SNPshot	rs1057518971
SNPdbe	rs1057518971
MSV3d	rs1057518971
GWAS Ctlg	rs1057518971

Max Magnitude

0

ClinVar
Risk	rs1057518971(T;T)
Alt	rs1057518971(T;T)
Reference	Rs1057518971(G;G)
Significance	Probable-Pathogenic
Disease	Congenital muscular dystrophy
Variation	info
Gene	LMNA
CLNDBN	Congenital muscular dystrophy
Reversed	0
HGVS	NC_000001.10:g.156084839G>T
CLNSRC
CLNACC	RCV000415420.1,