rs115650537

Orientation

plus

Stabilized

plus

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

Make rs115650537(C;C)

Make rs115650537(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

129502696

Gene	LAMA2, LOC102723409

is a	snp
is	mentioned by
dbSNP	rs115650537
dbSNP (classic)	rs115650537
ClinGen	rs115650537
ebi	rs115650537
HLI	rs115650537
Exac	rs115650537
Gnomad	rs115650537
Varsome	rs115650537
LitVar	rs115650537
Map	rs115650537
PheGenI	rs115650537
Biobank	rs115650537
1000 genomes	rs115650537
hgdp	rs115650537
ensembl	rs115650537
geneview	rs115650537
scholar	rs115650537
google	rs115650537
pharmgkb	rs115650537
gwascentral	rs115650537
openSNP	rs115650537
23andMe	rs115650537
SNPshot	rs115650537
SNPdbe	rs115650537
MSV3d	rs115650537
GWAS Ctlg	rs115650537

Max Magnitude

0

ClinVar
Risk	rs115650537(C;C)
Alt	rs115650537(C;C)
Reference	Rs115650537(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.129823841T>C
CLNSRC
CLNACC	RCV000170437.1,