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rs1057516336

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs1057516336(-;-)
Make rs1057516336(-;AT)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50080393
GeneMLC1
is asnp
is mentioned by
dbSNPrs1057516336
dbSNP (old)rs1057516336
ClinGenrs1057516336
ebirs1057516336
HLIrs1057516336
Exacrs1057516336
Gnomadrs1057516336
Varsomers1057516336
LitVarrs1057516336
Maprs1057516336
PheGenIrs1057516336
Biobankrs1057516336
1000 genomesrs1057516336
hgdprs1057516336
ensemblrs1057516336
gopubmedrs1057516336
geneviewrs1057516336
scholarrs1057516336
googlers1057516336
pharmgkbrs1057516336
gwascentralrs1057516336
openSNPrs1057516336
23andMers1057516336
23andMe allrs1057516336
SNPshotrs1057516336
SNPdbers1057516336
MSV3drs1057516336
GWAS Ctlgrs1057516336
Max Magnitude0
ClinVar
Risk rs1057516336(-;-)
Alt rs1057516336(-;-)
Reference Rs1057516336(AT;AT)
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.50518822_50518823delAT
CLNSRC
CLNACC RCV000409108.1,