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rs80358242

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358242(A;A)
Make rs80358242(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50084727
GeneMLC1
is asnp
is mentioned by
dbSNPrs80358242
ebirs80358242
HLIrs80358242
Exacrs80358242
Varsomers80358242
Maprs80358242
PheGenIrs80358242
hapmaprs80358242
1000 genomesrs80358242
hgdprs80358242
ensemblrs80358242
gopubmedrs80358242
geneviewrs80358242
scholarrs80358242
googlers80358242
pharmgkbrs80358242
gwascentralrs80358242
openSNPrs80358242
23andMers80358242
23andMe allrs80358242
SNP Nexus

SNPshotrs80358242
SNPdbers80358242
MSV3drs80358242
GWAS Ctlgrs80358242
Max Magnitude0
OMIM605908
Desc
Variant0009
Relatedalso
ClinVar
Risk rs80358242(A;A)
Alt rs80358242(A;A)
Reference rs80358242(G;G)
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.50523156C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004986.3,


[PMID 12189496] Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.