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rs387907052

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907052(C;T)
Make rs387907052(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position124924863
GeneHEPACAM
is asnp
is mentioned by
dbSNPrs387907052
ebirs387907052
HLIrs387907052
Exacrs387907052
Varsomers387907052
Maprs387907052
PheGenIrs387907052
hapmaprs387907052
1000 genomesrs387907052
hgdprs387907052
ensemblrs387907052
gopubmedrs387907052
geneviewrs387907052
scholarrs387907052
googlers387907052
pharmgkbrs387907052
gwascentralrs387907052
openSNPrs387907052
23andMers387907052
23andMe allrs387907052
SNP Nexus

SNPshotrs387907052
SNPdbers387907052
MSV3drs387907052
GWAS Ctlgrs387907052
Max Magnitude0
ClinVar
Risk rs387907052(T;T)
Alt rs387907052(T;T)
Reference rs387907052(C;C)
Significance Pathogenic
Disease Megalencephalic leukoencephalopathy with subcortical cysts 2a
Variation info
Gene HEPACAM
CLNDBN Megalencephalic leukoencephalopathy with subcortical cysts 2a
Reversed 1
HGVS NC_000011.9:g.124794759G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023906.3,