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rs387907344

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907344(G;T)
Make rs387907344(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107961205
GeneLAMB1
is asnp
is mentioned by
dbSNPrs387907344
dbSNP (classic)rs387907344
ClinGenrs387907344
ebirs387907344
HLIrs387907344
Exacrs387907344
Gnomadrs387907344
Varsomers387907344
LitVarrs387907344
Maprs387907344
PheGenIrs387907344
Biobankrs387907344
1000 genomesrs387907344
hgdprs387907344
ensemblrs387907344
geneviewrs387907344
scholarrs387907344
googlers387907344
pharmgkbrs387907344
gwascentralrs387907344
openSNPrs387907344
23andMers387907344
SNPshotrs387907344
SNPdbers387907344
MSV3drs387907344
GWAS Ctlgrs387907344
Max Magnitude0
ClinVar
Risk rs387907344(T;T)
Alt rs387907344(T;T)
Reference Rs387907344(G;G)
Significance Pathogenic
Disease Lissencephaly 5
Variation info
Gene LAMB1
CLNDBN Lissencephaly 5
Reversed 1
HGVS NC_000007.13:g.107601650C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000034857.26,