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rs879255266

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879255266(-;-)
Make rs879255266(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position107953678
GeneLAMB1
is asnp
is mentioned by
dbSNPrs879255266
dbSNP (classic)rs879255266
ClinGenrs879255266
ebirs879255266
HLIrs879255266
Exacrs879255266
Gnomadrs879255266
Varsomers879255266
LitVarrs879255266
Maprs879255266
PheGenIrs879255266
Biobankrs879255266
1000 genomesrs879255266
hgdprs879255266
ensemblrs879255266
geneviewrs879255266
scholarrs879255266
googlers879255266
pharmgkbrs879255266
gwascentralrs879255266
openSNPrs879255266
23andMers879255266
SNPshotrs879255266
SNPdbers879255266
MSV3drs879255266
GWAS Ctlgrs879255266
Max Magnitude0
ClinVar
Risk rs879255266(-;-)
Alt rs879255266(-;-)
Reference Rs879255266(G;G)
Significance Pathogenic
Disease Lissencephaly 5
Variation info
Gene LAMB1
CLNDBN Lissencephaly 5
Reversed 1
HGVS NC_000007.13:g.107594123delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000211028.1,