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rs281875309

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281875309(C;T)
Make rs281875309(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50083145
GeneMLC1
is asnp
is mentioned by
dbSNPrs281875309
ebirs281875309
HLIrs281875309
Exacrs281875309
Varsomers281875309
Maprs281875309
PheGenIrs281875309
hapmaprs281875309
1000 genomesrs281875309
hgdprs281875309
ensemblrs281875309
gopubmedrs281875309
geneviewrs281875309
scholarrs281875309
googlers281875309
pharmgkbrs281875309
gwascentralrs281875309
openSNPrs281875309
23andMers281875309
23andMe allrs281875309
SNP Nexus

SNPshotrs281875309
SNPdbers281875309
MSV3drs281875309
GWAS Ctlgrs281875309
Max Magnitude0
ClinVar
Risk rs281875309(T;T)
Alt rs281875309(T;T)
Reference rs281875309(C;C)
Significance Pathogenic
Disease Megalencephalic leukoencephalopathy with subcortical cysts 1 not provided
Variation info
Gene MLC1
CLNDBN Megalencephalic leukoencephalopathy with subcortical cysts 1 not provided
Reversed 1
HGVS NC_000022.10:g.50521574G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000024319.2, RCV000059741.1,


[PMID 16652334] Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.