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rs1057516766

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516766(-;-)
Make rs1057516766(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50084767
GeneMLC1
is asnp
is mentioned by
dbSNPrs1057516766
dbSNP (old)rs1057516766
ClinGenrs1057516766
ebirs1057516766
HLIrs1057516766
Exacrs1057516766
Gnomadrs1057516766
Varsomers1057516766
Maprs1057516766
PheGenIrs1057516766
Biobankrs1057516766
1000 genomesrs1057516766
hgdprs1057516766
ensemblrs1057516766
gopubmedrs1057516766
geneviewrs1057516766
scholarrs1057516766
googlers1057516766
pharmgkbrs1057516766
gwascentralrs1057516766
openSNPrs1057516766
23andMers1057516766
23andMe allrs1057516766
SNPshotrs1057516766
SNPdbers1057516766
MSV3drs1057516766
GWAS Ctlgrs1057516766
Max Magnitude0
ClinVar
Risk rs1057516766(-;-)
Alt rs1057516766(-;-)
Reference Rs1057516766(T;T)
Significance Probable-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.50523196delA
CLNSRC
CLNACC RCV000410132.1,