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rs387907049

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907049(A;A)
Make rs387907049(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position124923851
GeneHEPACAM
is asnp
is mentioned by
dbSNPrs387907049
ebirs387907049
HLIrs387907049
Exacrs387907049
Varsomers387907049
Maprs387907049
PheGenIrs387907049
hapmaprs387907049
1000 genomesrs387907049
hgdprs387907049
ensemblrs387907049
gopubmedrs387907049
geneviewrs387907049
scholarrs387907049
googlers387907049
pharmgkbrs387907049
gwascentralrs387907049
openSNPrs387907049
23andMers387907049
23andMe allrs387907049
SNP Nexus

SNPshotrs387907049
SNPdbers387907049
MSV3drs387907049
GWAS Ctlgrs387907049
Max Magnitude0
ClinVar
Risk rs387907049(A,T;A,T)
Alt rs387907049(A,T;A,T)
Reference rs387907049(C;C)
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.124793747G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023902.2,