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rs387907050

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907050(A;A)
Make rs387907050(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position124924880
GeneHEPACAM
is asnp
is mentioned by
dbSNPrs387907050
ebirs387907050
HLIrs387907050
Exacrs387907050
Varsomers387907050
Maprs387907050
PheGenIrs387907050
hapmaprs387907050
1000 genomesrs387907050
hgdprs387907050
ensemblrs387907050
gopubmedrs387907050
geneviewrs387907050
scholarrs387907050
googlers387907050
pharmgkbrs387907050
gwascentralrs387907050
openSNPrs387907050
23andMers387907050
23andMe allrs387907050
SNP Nexus

SNPshotrs387907050
SNPdbers387907050
MSV3drs387907050
GWAS Ctlgrs387907050
Max Magnitude0
ClinVar
Risk rs387907050(A;A)
Alt rs387907050(A;A)
Reference rs387907050(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.124794776C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023904.4,