rs202247790

Orientation

plus

Stabilized

plus

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

Make rs202247790(-;-)

Make rs202247790(-;AG)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129252248

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs202247790
dbSNP (classic)	rs202247790
ClinGen	rs202247790
ebi	rs202247790
HLI	rs202247790
Exac	rs202247790
Gnomad	rs202247790
Varsome	rs202247790
LitVar	rs202247790
Map	rs202247790
PheGenI	rs202247790
Biobank	rs202247790
1000 genomes	rs202247790
hgdp	rs202247790
ensembl	rs202247790
geneview	rs202247790
scholar	rs202247790
google	rs202247790
pharmgkb	rs202247790
gwascentral	rs202247790
openSNP	rs202247790
23andMe	rs202247790
SNPshot	rs202247790
SNPdbe	rs202247790
MSV3d	rs202247790
GWAS Ctlg	rs202247790

Max Magnitude

0

ClinVar
Risk	rs202247790(-;-)
Alt	rs202247790(-;-)
Reference	Rs202247790(AG;AG)
Significance	Pathogenic
Disease	Merosin deficient congenital muscular dystrophy not provided not specified
Variation	info
Gene	LAMA2
CLNDBN	Merosin deficient congenital muscular dystrophy not provided not specified
Reversed	0
HGVS	NC_000006.11:g.129573393_129573394delAG
CLNSRC	HGMD
CLNACC	RCV000031899.2, RCV000078754.3, RCV000200517.1, RCV000230453.1,