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rs387907054

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907054(A;A)
Make rs387907054(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position124924889
GeneHEPACAM
is asnp
is mentioned by
dbSNPrs387907054
ebirs387907054
HLIrs387907054
Exacrs387907054
Varsomers387907054
Maprs387907054
PheGenIrs387907054
hapmaprs387907054
1000 genomesrs387907054
hgdprs387907054
ensemblrs387907054
gopubmedrs387907054
geneviewrs387907054
scholarrs387907054
googlers387907054
pharmgkbrs387907054
gwascentralrs387907054
openSNPrs387907054
23andMers387907054
23andMe allrs387907054
SNP Nexus

SNPshotrs387907054
SNPdbers387907054
MSV3drs387907054
GWAS Ctlgrs387907054
Max Magnitude0
ClinVar
Risk rs387907054(A;A)
Alt rs387907054(A;A)
Reference rs387907054(G;G)
Significance Pathogenic
Disease Megalencephalic leukoencephalopathy with subcortical cysts 2b
Variation info
Gene HEPACAM
CLNDBN Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with mental retardation
Reversed 1
HGVS NC_000011.9:g.124794785C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023908.3,