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rs387907051

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907051(A;A)
Make rs387907051(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position124923807
GeneHEPACAM
is asnp
is mentioned by
dbSNPrs387907051
ebirs387907051
HLIrs387907051
Exacrs387907051
Varsomers387907051
Maprs387907051
PheGenIrs387907051
hapmaprs387907051
1000 genomesrs387907051
hgdprs387907051
ensemblrs387907051
gopubmedrs387907051
geneviewrs387907051
scholarrs387907051
googlers387907051
pharmgkbrs387907051
gwascentralrs387907051
openSNPrs387907051
23andMers387907051
23andMe allrs387907051
SNP Nexus

SNPshotrs387907051
SNPdbers387907051
MSV3drs387907051
GWAS Ctlgrs387907051
Max Magnitude0
ClinVar
Risk rs387907051(A;A)
Alt rs387907051(A;A)
Reference rs387907051(G;G)
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.124793703C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023905.2,