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rs387907055

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907055(C;T)
Make rs387907055(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position124924881
GeneHEPACAM
is asnp
is mentioned by
dbSNPrs387907055
ebirs387907055
HLIrs387907055
Exacrs387907055
Varsomers387907055
Maprs387907055
PheGenIrs387907055
hapmaprs387907055
1000 genomesrs387907055
hgdprs387907055
ensemblrs387907055
gopubmedrs387907055
geneviewrs387907055
scholarrs387907055
googlers387907055
pharmgkbrs387907055
gwascentralrs387907055
openSNPrs387907055
23andMers387907055
23andMe allrs387907055
SNP Nexus

SNPshotrs387907055
SNPdbers387907055
MSV3drs387907055
GWAS Ctlgrs387907055
Max Magnitude0
ClinVar
Risk rs387907055(T;T)
Alt rs387907055(T;T)
Reference rs387907055(C;C)
Significance Pathogenic
Disease Megalencephalic leukoencephalopathy with subcortical cysts 2b Megalencephalic leukoencephalopathy with subcortical cysts 2a
Variation info
Gene HEPACAM
CLNDBN Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation Megalencephalic leukoencephalopathy with subcortical cysts 2a
Reversed 1
HGVS NC_000011.9:g.124794777G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023909.2, RCV000055997.1,