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rs1057516286

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516286(-;A)
Make rs1057516286(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50084819
GeneMLC1
is asnp
is mentioned by
dbSNPrs1057516286
dbSNP (old)rs1057516286
ClinGenrs1057516286
ebirs1057516286
HLIrs1057516286
Exacrs1057516286
Gnomadrs1057516286
Varsomers1057516286
Maprs1057516286
PheGenIrs1057516286
Biobankrs1057516286
1000 genomesrs1057516286
hgdprs1057516286
ensemblrs1057516286
gopubmedrs1057516286
geneviewrs1057516286
scholarrs1057516286
googlers1057516286
pharmgkbrs1057516286
gwascentralrs1057516286
openSNPrs1057516286
23andMers1057516286
23andMe allrs1057516286
SNPshotrs1057516286
SNPdbers1057516286
MSV3drs1057516286
GWAS Ctlgrs1057516286
Max Magnitude0
ClinVar
Risk rs1057516286(A;A)
Alt rs1057516286(A;A)
Reference Rs1057516286(-;-)
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.50523249dupT
CLNSRC
CLNACC RCV000411151.1,