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rs267607236

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTCA;CTCA) 0 common in clinvar
Make rs267607236(-;-)
Make rs267607236(-;CTCA)
ReferenceGRCh38 38.1/141
Chromosome22
Position50076841
GeneMLC1
is asnp
is mentioned by
dbSNPrs267607236
ebirs267607236
HLIrs267607236
Exacrs267607236
Varsomers267607236
Maprs267607236
PheGenIrs267607236
hapmaprs267607236
1000 genomesrs267607236
hgdprs267607236
ensemblrs267607236
gopubmedrs267607236
geneviewrs267607236
scholarrs267607236
googlers267607236
pharmgkbrs267607236
gwascentralrs267607236
openSNPrs267607236
23andMers267607236
23andMe allrs267607236
SNP Nexus

SNPshotrs267607236
SNPdbers267607236
MSV3drs267607236
GWAS Ctlgrs267607236
Max Magnitude0
ClinVar
Risk rs267607236(;)
Alt rs267607236(;)
Reference rs267607236(CTCA;CTCA)
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.50515270_50515273delTGAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000004985.2,