Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs139093330

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs139093330(A;A)
Make rs139093330(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position156592671
GeneNAXE
is asnp
is mentioned by
dbSNPrs139093330
dbSNP (old)rs139093330
ClinGenrs139093330
ebirs139093330
HLIrs139093330
Exacrs139093330
Gnomadrs139093330
Varsomers139093330
Maprs139093330
PheGenIrs139093330
Biobankrs139093330
1000 genomesrs139093330
hgdprs139093330
ensemblrs139093330
gopubmedrs139093330
geneviewrs139093330
scholarrs139093330
googlers139093330
pharmgkbrs139093330
gwascentralrs139093330
openSNPrs139093330
23andMers139093330
23andMe allrs139093330
SNPshotrs139093330
SNPdbers139093330
MSV3drs139093330
GWAS Ctlgrs139093330
Max Magnitude0
ClinVar
Risk rs139093330(A;A)
Alt rs139093330(A;A)
Reference Rs139093330(G;G)
Significance Pathogenic
Disease Encephalopathy
Variation info
Gene NAXE APOA1BP
CLNDBN Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
Reversed 0
HGVS NC_000001.10:g.156562463G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000258842.1,