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rs387907053

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907053(A;A)
Make rs387907053(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position124924890
GeneHEPACAM
is asnp
is mentioned by
dbSNPrs387907053
ebirs387907053
HLIrs387907053
Exacrs387907053
Varsomers387907053
Maprs387907053
PheGenIrs387907053
hapmaprs387907053
1000 genomesrs387907053
hgdprs387907053
ensemblrs387907053
gopubmedrs387907053
geneviewrs387907053
scholarrs387907053
googlers387907053
pharmgkbrs387907053
gwascentralrs387907053
openSNPrs387907053
23andMers387907053
23andMe allrs387907053
SNP Nexus

SNPshotrs387907053
SNPdbers387907053
MSV3drs387907053
GWAS Ctlgrs387907053
Max Magnitude0
ClinVar
Risk rs387907053(A;A)
Alt rs387907053(A;A)
Reference rs387907053(G;G)
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.124794786C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023907.3, RCV000055996.1,