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rs145465528

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs145465528(C;T)
Make rs145465528(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position129143976
GeneLAMA2
is asnp
is mentioned by
dbSNPrs145465528
ebirs145465528
HLIrs145465528
Exacrs145465528
Varsomers145465528
Maprs145465528
PheGenIrs145465528
hapmaprs145465528
1000 genomesrs145465528
hgdprs145465528
ensemblrs145465528
gopubmedrs145465528
geneviewrs145465528
scholarrs145465528
googlers145465528
pharmgkbrs145465528
gwascentralrs145465528
openSNPrs145465528
23andMers145465528
23andMe allrs145465528
SNP Nexus

SNPshotrs145465528
SNPdbers145465528
MSV3drs145465528
GWAS Ctlgrs145465528
Max Magnitude0
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,