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rs1057517228

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517228(C;T)
Make rs1057517228(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50084836
GeneMLC1
is asnp
is mentioned by
dbSNPrs1057517228
dbSNP (old)rs1057517228
ClinGenrs1057517228
ebirs1057517228
HLIrs1057517228
Exacrs1057517228
Gnomadrs1057517228
Varsomers1057517228
LitVarrs1057517228
Maprs1057517228
PheGenIrs1057517228
Biobankrs1057517228
1000 genomesrs1057517228
hgdprs1057517228
ensemblrs1057517228
gopubmedrs1057517228
geneviewrs1057517228
scholarrs1057517228
googlers1057517228
pharmgkbrs1057517228
gwascentralrs1057517228
openSNPrs1057517228
23andMers1057517228
23andMe allrs1057517228
SNPshotrs1057517228
SNPdbers1057517228
MSV3drs1057517228
GWAS Ctlgrs1057517228
Max Magnitude0
ClinVar
Risk rs1057517228(T;T)
Alt rs1057517228(T;T)
Reference Rs1057517228(C;C)
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.50523265G>A
CLNSRC
CLNACC RCV000410294.1,