rs759555791

Orientation

plus

Stabilized

plus

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

Make rs759555791(A;A)

Make rs759555791(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

129288059

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs759555791
dbSNP (classic)	rs759555791
ClinGen	rs759555791
ebi	rs759555791
HLI	rs759555791
Exac	rs759555791
Gnomad	rs759555791
Varsome	rs759555791
LitVar	rs759555791
Map	rs759555791
PheGenI	rs759555791
Biobank	rs759555791
1000 genomes	rs759555791
hgdp	rs759555791
ensembl	rs759555791
geneview	rs759555791
scholar	rs759555791
google	rs759555791
pharmgkb	rs759555791
gwascentral	rs759555791
openSNP	rs759555791
23andMe	rs759555791
SNPshot	rs759555791
SNPdbe	rs759555791
MSV3d	rs759555791
GWAS Ctlg	rs759555791

Max Magnitude

0

ClinVar
Risk	rs759555791(A;A) rs759555791(C;C)
Alt	rs759555791(A;A) rs759555791(C;C)
Reference	Rs759555791(G;G)
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.129609204G>C
CLNSRC
CLNACC	RCV000175397.1,