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rs121908343

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908343(A;A)
Make rs121908343(A;C)
ReferenceGRCh38 38.1/141
Chromosome22
Position50079918
GeneMLC1
is asnp
is mentioned by
dbSNPrs121908343
ebirs121908343
HLIrs121908343
Exacrs121908343
Varsomers121908343
Maprs121908343
PheGenIrs121908343
hapmaprs121908343
1000 genomesrs121908343
hgdprs121908343
ensemblrs121908343
gopubmedrs121908343
geneviewrs121908343
scholarrs121908343
googlers121908343
pharmgkbrs121908343
gwascentralrs121908343
openSNPrs121908343
23andMers121908343
23andMe allrs121908343
SNP Nexus

SNPshotrs121908343
SNPdbers121908343
MSV3drs121908343
GWAS Ctlgrs121908343
Max Magnitude0
OMIM605908
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908343(A;A)
Alt rs121908343(A;A)
Reference rs121908343(C;C)
Significance Pathogenic
Disease Megalencephalic leukoencephalopathy with subcortical cysts 1
Variation info
Gene MLC1
CLNDBN Megalencephalic leukoencephalopathy with subcortical cysts 1
Reversed 1
HGVS NC_000022.10:g.50518347G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004982.2,