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rs1057517090

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(TCCTGCT;TCCTGCT) 0 common in clinvar
Make rs1057517090(-;-)
Make rs1057517090(-;TCCTGCT)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50077471
GeneMLC1
is asnp
is mentioned by
dbSNPrs1057517090
dbSNP (old)rs1057517090
ClinGenrs1057517090
ebirs1057517090
HLIrs1057517090
Exacrs1057517090
Gnomadrs1057517090
Varsomers1057517090
Maprs1057517090
PheGenIrs1057517090
Biobankrs1057517090
1000 genomesrs1057517090
hgdprs1057517090
ensemblrs1057517090
gopubmedrs1057517090
geneviewrs1057517090
scholarrs1057517090
googlers1057517090
pharmgkbrs1057517090
gwascentralrs1057517090
openSNPrs1057517090
23andMers1057517090
23andMe allrs1057517090
SNPshotrs1057517090
SNPdbers1057517090
MSV3drs1057517090
GWAS Ctlgrs1057517090
Max Magnitude0
ClinVar
Risk rs1057517090(-;-)
Alt rs1057517090(-;-)
Reference Rs1057517090(TCCTGCT;TCCTGCT)
Significance 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.50515900_50515906delAGCAGGA
CLNSRC
CLNACC RCV000412051.1,