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rs794729233

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794729233(-;-)
Make rs794729233(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position50083128
GeneMLC1
is asnp
is mentioned by
dbSNPrs794729233
dbSNP (classic)rs794729233
ClinGenrs794729233
ebirs794729233
HLIrs794729233
Exacrs794729233
Gnomadrs794729233
Varsomers794729233
LitVarrs794729233
Maprs794729233
PheGenIrs794729233
Biobankrs794729233
1000 genomesrs794729233
hgdprs794729233
ensemblrs794729233
geneviewrs794729233
scholarrs794729233
googlers794729233
pharmgkbrs794729233
gwascentralrs794729233
openSNPrs794729233
23andMers794729233
SNPshotrs794729233
SNPdbers794729233
MSV3drs794729233
GWAS Ctlgrs794729233
Max Magnitude0
ClinVar
Risk rs794729233(-;-)
Alt rs794729233(-;-)
Reference Rs794729233(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.50521557delC
CLNSRC
CLNACC RCV000184054.1,