rs202247791

Orientation

plus

Stabilized

plus

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

Make rs202247791(-;ACGTGTTC)

Make rs202247791(ACGTGTTC;ACGTGTTC)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129250190

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs202247791
dbSNP (classic)	rs202247791
ClinGen	rs202247791
ebi	rs202247791
HLI	rs202247791
Exac	rs202247791
Gnomad	rs202247791
Varsome	rs202247791
LitVar	rs202247791
Map	rs202247791
PheGenI	rs202247791
Biobank	rs202247791
1000 genomes	rs202247791
hgdp	rs202247791
ensembl	rs202247791
geneview	rs202247791
scholar	rs202247791
google	rs202247791
pharmgkb	rs202247791
gwascentral	rs202247791
openSNP	rs202247791
23andMe	rs202247791
SNPshot	rs202247791
SNPdbe	rs202247791
MSV3d	rs202247791
GWAS Ctlg	rs202247791

Max Magnitude

0

ClinVar
Risk	rs202247791(ACGTGTTC;ACGTGTTC)
Alt	rs202247791(ACGTGTTC;ACGTGTTC)
Reference	Rs202247791(-;-)
Significance	Pathogenic
Disease	Merosin deficient congenital muscular dystrophy not provided
Variation	info
Gene	LAMA2
CLNDBN	Merosin deficient congenital muscular dystrophy not provided
Reversed	0
HGVS	NC_000006.11:g.129571328_129571335dupACGTGTTC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000031898.2, RCV000486702.1,