rs202247792

Orientation

plus

Stabilized

plus

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

Make rs202247792(G;G)

Make rs202247792(G;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129486605

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs202247792
dbSNP (classic)	rs202247792
ClinGen	rs202247792
ebi	rs202247792
HLI	rs202247792
Exac	rs202247792
Gnomad	rs202247792
Varsome	rs202247792
LitVar	rs202247792
Map	rs202247792
PheGenI	rs202247792
Biobank	rs202247792
1000 genomes	rs202247792
hgdp	rs202247792
ensembl	rs202247792
geneview	rs202247792
scholar	rs202247792
google	rs202247792
pharmgkb	rs202247792
gwascentral	rs202247792
openSNP	rs202247792
23andMe	rs202247792
SNPshot	rs202247792
SNPdbe	rs202247792
MSV3d	rs202247792
GWAS Ctlg	rs202247792

Max Magnitude

0

ClinVar
Risk	rs202247792(G;G)
Alt	rs202247792(G;G)
Reference	Rs202247792(T;T)
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.129807750T>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000031900.1,