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rs121908341

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908341(C;T)
Make rs121908341(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50068488
GeneMLC1
is asnp
is mentioned by
dbSNPrs121908341
ebirs121908341
HLIrs121908341
Exacrs121908341
Varsomers121908341
Maprs121908341
PheGenIrs121908341
hapmaprs121908341
1000 genomesrs121908341
hgdprs121908341
ensemblrs121908341
gopubmedrs121908341
geneviewrs121908341
scholarrs121908341
googlers121908341
pharmgkbrs121908341
gwascentralrs121908341
openSNPrs121908341
23andMers121908341
23andMe allrs121908341
SNP Nexus

SNPshotrs121908341
SNPdbers121908341
MSV3drs121908341
GWAS Ctlgrs121908341
Max Magnitude0
OMIM605908
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908341(T;T)
Alt rs121908341(T;T)
Reference rs121908341(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.50506917G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004978.2,