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rs143680577

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs143680577(C;G)
Make rs143680577(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position129098213
GeneLAMA2
is asnp
is mentioned by
dbSNPrs143680577
dbSNP (classic)rs143680577
ClinGenrs143680577
ebirs143680577
HLIrs143680577
Exacrs143680577
Gnomadrs143680577
Varsomers143680577
LitVarrs143680577
Maprs143680577
PheGenIrs143680577
Biobankrs143680577
1000 genomesrs143680577
hgdprs143680577
ensemblrs143680577
geneviewrs143680577
scholarrs143680577
googlers143680577
pharmgkbrs143680577
gwascentralrs143680577
openSNPrs143680577
23andMers143680577
SNPshotrs143680577
SNPdbers143680577
MSV3drs143680577
GWAS Ctlgrs143680577
Max Magnitude0
ClinVar
Risk rs143680577(G;G) rs143680577(T;T)
Alt rs143680577(G;G) rs143680577(T;T)
Reference Rs143680577(C;C)
Significance Probable-Pathogenic
Disease Congenital muscular dystrophy
Variation info
Gene LAMA2
CLNDBN Congenital muscular dystrophy
Reversed 0
HGVS NC_000006.11:g.129419358C>T
CLNSRC
CLNACC RCV000149982.1,