rs186538779

Orientation

plus

Stabilized

plus

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

Make rs186538779(A;G)

Make rs186538779(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

129280071

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs186538779
dbSNP (classic)	rs186538779
ClinGen	rs186538779
ebi	rs186538779
HLI	rs186538779
Exac	rs186538779
Gnomad	rs186538779
Varsome	rs186538779
LitVar	rs186538779
Map	rs186538779
PheGenI	rs186538779
Biobank	rs186538779
1000 genomes	rs186538779
hgdp	rs186538779
ensembl	rs186538779
geneview	rs186538779
scholar	rs186538779
google	rs186538779
pharmgkb	rs186538779
gwascentral	rs186538779
openSNP	rs186538779
23andMe	rs186538779
SNPshot	rs186538779
SNPdbe	rs186538779
MSV3d	rs186538779
GWAS Ctlg	rs186538779

Max Magnitude

0

ClinVar
Risk	rs186538779(C;C) rs186538779(G;G)
Alt	rs186538779(C;C) rs186538779(G;G)
Reference	Rs186538779(A;A)
Significance	Pathogenic
Disease	Merosin deficient congenital muscular dystrophy
Variation	info
Gene	LAMA2
CLNDBN	Merosin deficient congenital muscular dystrophy
Reversed	0
HGVS	NC_000006.11:g.129601216A>C
CLNSRC
CLNACC	RCV000170437.1,