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rs80358243

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80358243(A;A)
Make rs80358243(A;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50083183
GeneMLC1
is asnp
is mentioned by
dbSNPrs80358243
ebirs80358243
HLIrs80358243
Exacrs80358243
Varsomers80358243
Maprs80358243
PheGenIrs80358243
hapmaprs80358243
1000 genomesrs80358243
hgdprs80358243
ensemblrs80358243
gopubmedrs80358243
geneviewrs80358243
scholarrs80358243
googlers80358243
pharmgkbrs80358243
gwascentralrs80358243
openSNPrs80358243
23andMers80358243
23andMe allrs80358243
SNP Nexus

SNPshotrs80358243
SNPdbers80358243
MSV3drs80358243
GWAS Ctlgrs80358243
Max Magnitude0
ClinVar
Risk rs80358243(A,C;A,C)
Alt rs80358243(A,C;A,C)
Reference rs80358243(T;T)
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.50521612A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020712.2,