rs145465528

Orientation

plus

Stabilized

plus

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

Make rs145465528(C;T)

Make rs145465528(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

6

Position

129143976

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs145465528
dbSNP (classic)	rs145465528
ClinGen	rs145465528
ebi	rs145465528
HLI	rs145465528
Exac	rs145465528
Gnomad	rs145465528
Varsome	rs145465528
LitVar	rs145465528
Map	rs145465528
PheGenI	rs145465528
Biobank	rs145465528
1000 genomes	rs145465528
hgdp	rs145465528
ensembl	rs145465528
geneview	rs145465528
scholar	rs145465528
google	rs145465528
pharmgkb	rs145465528
gwascentral	rs145465528
openSNP	rs145465528
23andMe	rs145465528
SNPshot	rs145465528
SNPdbe	rs145465528
MSV3d	rs145465528
GWAS Ctlg	rs145465528

Max Magnitude

0

ClinVar
Risk	rs145465528(T;T)
Alt	rs145465528(T;T)
Reference	Rs145465528(C;C)
Significance	Probable-Pathogenic
Disease	Merosin deficient congenital muscular dystrophy
Variation	info
Gene	LAMA2
CLNDBN	Merosin deficient congenital muscular dystrophy
Reversed	0
HGVS	NC_000006.11:g.129465121C>T
CLNSRC
CLNACC	RCV000209850.1,