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rs121908344

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908344(A;G)
Make rs121908344(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50079919
GeneMLC1
is asnp
is mentioned by
dbSNPrs121908344
ebirs121908344
HLIrs121908344
Exacrs121908344
Varsomers121908344
Maprs121908344
PheGenIrs121908344
hapmaprs121908344
1000 genomesrs121908344
hgdprs121908344
ensemblrs121908344
gopubmedrs121908344
geneviewrs121908344
scholarrs121908344
googlers121908344
pharmgkbrs121908344
gwascentralrs121908344
openSNPrs121908344
23andMers121908344
23andMe allrs121908344
SNP Nexus

SNPshotrs121908344
SNPdbers121908344
MSV3drs121908344
GWAS Ctlgrs121908344
Max Magnitude0
OMIM605908
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908344(G;G)
Alt rs121908344(G;G)
Reference rs121908344(A;A)
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.50518348T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004983.2,