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rs121908345

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908345(C;T)
Make rs121908345(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50080391
GeneMLC1
is asnp
is mentioned by
dbSNPrs121908345
ebirs121908345
HLIrs121908345
Exacrs121908345
Varsomers121908345
Maprs121908345
PheGenIrs121908345
hapmaprs121908345
1000 genomesrs121908345
hgdprs121908345
ensemblrs121908345
gopubmedrs121908345
geneviewrs121908345
scholarrs121908345
googlers121908345
pharmgkbrs121908345
gwascentralrs121908345
openSNPrs121908345
23andMers121908345
23andMe allrs121908345
SNP Nexus

SNPshotrs121908345
SNPdbers121908345
MSV3drs121908345
GWAS Ctlgrs121908345
Max Magnitude0
OMIM605908
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908345(T;T)
Alt rs121908345(T;T)
Reference rs121908345(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.50518820G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004984.2,