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rs770617208

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs770617208(G;T)
Make rs770617208(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome6
Position129059897
GeneLAMA2
is asnp
is mentioned by
dbSNPrs770617208
dbSNP (classic)rs770617208
ClinGenrs770617208
ebirs770617208
HLIrs770617208
Exacrs770617208
Gnomadrs770617208
Varsomers770617208
LitVarrs770617208
Maprs770617208
PheGenIrs770617208
Biobankrs770617208
1000 genomesrs770617208
hgdprs770617208
ensemblrs770617208
geneviewrs770617208
scholarrs770617208
googlers770617208
pharmgkbrs770617208
gwascentralrs770617208
openSNPrs770617208
23andMers770617208
SNPshotrs770617208
SNPdbers770617208
MSV3drs770617208
GWAS Ctlgrs770617208
Max Magnitude0
ClinVar
Risk rs770617208(T;T)
Alt rs770617208(T;T)
Reference Rs770617208(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.129381042G>T
CLNSRC
CLNACC RCV000316746.1,