rs730880252

Orientation

plus

Stabilized

plus

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

Make rs730880252(C;C)

Make rs730880252(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

128883277

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs730880252
dbSNP (classic)	rs730880252
ClinGen	rs730880252
ebi	rs730880252
HLI	rs730880252
Exac	rs730880252
Gnomad	rs730880252
Varsome	rs730880252
LitVar	rs730880252
Map	rs730880252
PheGenI	rs730880252
Biobank	rs730880252
1000 genomes	rs730880252
hgdp	rs730880252
ensembl	rs730880252
geneview	rs730880252
scholar	rs730880252
google	rs730880252
pharmgkb	rs730880252
gwascentral	rs730880252
openSNP	rs730880252
23andMe	rs730880252
SNPshot	rs730880252
SNPdbe	rs730880252
MSV3d	rs730880252
GWAS Ctlg	rs730880252

Max Magnitude

0

ClinVar
Risk	rs730880252(C;C)
Alt	rs730880252(C;C)
Reference	Rs730880252(T;T)
Significance	Probable-Pathogenic
Disease	Merosin deficient congenital muscular dystrophy
Variation	info
Gene	LAMA2
CLNDBN	Merosin deficient congenital muscular dystrophy
Reversed	0
HGVS	NC_000006.11:g.129204422T>C
CLNSRC
CLNACC	RCV000157587.1,