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rs786204747

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786204747(-;-)
Make rs786204747(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome22
Position50080017
GeneMLC1
is asnp
is mentioned by
dbSNPrs786204747
ebirs786204747
HLIrs786204747
Exacrs786204747
Varsomers786204747
Maprs786204747
PheGenIrs786204747
hapmaprs786204747
1000 genomesrs786204747
hgdprs786204747
ensemblrs786204747
gopubmedrs786204747
geneviewrs786204747
scholarrs786204747
googlers786204747
pharmgkbrs786204747
gwascentralrs786204747
openSNPrs786204747
23andMers786204747
23andMe allrs786204747
SNP Nexus

SNPshotrs786204747
SNPdbers786204747
MSV3drs786204747
GWAS Ctlgrs786204747
Max Magnitude0
ClinVar
Risk rs786204747(;)
Alt rs786204747(;)
Reference rs786204747(T;T)
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.50518446delA
CLNSRC
CLNACC RCV000169597.1,