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rs1057517375

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs1057517375(-;-)
Make rs1057517375(-;TG)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50074305
GeneMLC1
is asnp
is mentioned by
dbSNPrs1057517375
dbSNP (old)rs1057517375
ClinGenrs1057517375
ebirs1057517375
HLIrs1057517375
Exacrs1057517375
Gnomadrs1057517375
Varsomers1057517375
LitVarrs1057517375
Maprs1057517375
PheGenIrs1057517375
Biobankrs1057517375
1000 genomesrs1057517375
hgdprs1057517375
ensemblrs1057517375
gopubmedrs1057517375
geneviewrs1057517375
scholarrs1057517375
googlers1057517375
pharmgkbrs1057517375
gwascentralrs1057517375
openSNPrs1057517375
23andMers1057517375
23andMe allrs1057517375
SNPshotrs1057517375
SNPdbers1057517375
MSV3drs1057517375
GWAS Ctlgrs1057517375
Max Magnitude0
ClinVar
Risk rs1057517375(-;-)
Alt rs1057517375(-;-)
Reference Rs1057517375(TG;TG)
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.50512734_50512735delCA
CLNSRC
CLNACC RCV000410276.1,