Have questions? Visit https://www.reddit.com/r/SNPedia

rs746762473

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs746762473(A;A)
Make rs746762473(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome6
Position129402366
GeneLAMA2
is asnp
is mentioned by
dbSNPrs746762473
dbSNP (classic)rs746762473
ClinGenrs746762473
ebirs746762473
HLIrs746762473
Exacrs746762473
Gnomadrs746762473
Varsomers746762473
LitVarrs746762473
Maprs746762473
PheGenIrs746762473
Biobankrs746762473
1000 genomesrs746762473
hgdprs746762473
ensemblrs746762473
geneviewrs746762473
scholarrs746762473
googlers746762473
pharmgkbrs746762473
gwascentralrs746762473
openSNPrs746762473
23andMers746762473
SNPshotrs746762473
SNPdbers746762473
MSV3drs746762473
GWAS Ctlgrs746762473
Max Magnitude0
ClinVar
Risk rs746762473(A;A) rs746762473(T;T)
Alt rs746762473(A;A) rs746762473(T;T)
Reference Rs746762473(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.129723511G>T
CLNSRC
CLNACC RCV000306212.1,