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rs761620701

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs761620701(C;T)
Make rs761620701(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position50074215
GeneMLC1
is asnp
is mentioned by
dbSNPrs761620701
ebirs761620701
HLIrs761620701
Exacrs761620701
Varsomers761620701
Maprs761620701
PheGenIrs761620701
hapmaprs761620701
1000 genomesrs761620701
hgdprs761620701
ensemblrs761620701
gopubmedrs761620701
geneviewrs761620701
scholarrs761620701
googlers761620701
pharmgkbrs761620701
gwascentralrs761620701
openSNPrs761620701
23andMers761620701
23andMe allrs761620701
SNP Nexus

SNPshotrs761620701
SNPdbers761620701
MSV3drs761620701
GWAS Ctlgrs761620701
Max Magnitude0
ClinVar
Risk rs761620701(T;T)
Alt rs761620701(T;T)
Reference rs761620701(C;C)
Significance Probable-Pathogenic
Disease Megalencephalic leukoencephalopathy with subcortical cysts 1
Variation info
Gene MLC1
CLNDBN Megalencephalic leukoencephalopathy with subcortical cysts 1
Reversed 0
HGVS NC_000022.10:g.50512644C>T
CLNSRC
CLNACC RCV000169359.1,