Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516465

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516465(C;T)
Make rs1057516465(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50064120
GeneMLC1
is asnp
is mentioned by
dbSNPrs1057516465
dbSNP (old)rs1057516465
ClinGenrs1057516465
ebirs1057516465
HLIrs1057516465
Exacrs1057516465
Gnomadrs1057516465
Varsomers1057516465
LitVarrs1057516465
Maprs1057516465
PheGenIrs1057516465
Biobankrs1057516465
1000 genomesrs1057516465
hgdprs1057516465
ensemblrs1057516465
gopubmedrs1057516465
geneviewrs1057516465
scholarrs1057516465
googlers1057516465
pharmgkbrs1057516465
gwascentralrs1057516465
openSNPrs1057516465
23andMers1057516465
23andMe allrs1057516465
SNPshotrs1057516465
SNPdbers1057516465
MSV3drs1057516465
GWAS Ctlgrs1057516465
Max Magnitude0
ClinVar
Risk rs1057516465(T;T)
Alt rs1057516465(T;T)
Reference Rs1057516465(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.50502549G>A
CLNSRC
CLNACC RCV000409034.1,