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rs387906248

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CATGCCCGCCTGGAACTT;CATGCCCGCCTGGAACTT) 0 common in clinvar
Make rs387906248(-;-)
Make rs387906248(-;CATGCCCGCCTGGAACTT)
ReferenceGRCh38 38.1/141
Chromosome17
Position75960256
GeneACOX1
is asnp
is mentioned by
dbSNPrs387906248
ebirs387906248
HLIrs387906248
Exacrs387906248
Varsomers387906248
Maprs387906248
PheGenIrs387906248
hapmaprs387906248
1000 genomesrs387906248
hgdprs387906248
ensemblrs387906248
gopubmedrs387906248
geneviewrs387906248
scholarrs387906248
googlers387906248
pharmgkbrs387906248
gwascentralrs387906248
openSNPrs387906248
23andMers387906248
23andMe allrs387906248
SNP Nexus

SNPshotrs387906248
SNPdbers387906248
MSV3drs387906248
GWAS Ctlgrs387906248
Max Magnitude0
ClinVar
Risk rs387906248(;)
Alt rs387906248(;)
Reference rs387906248(CATGCCCGCCTGGAACTT;CATGCCCGCCTGGAACTT)
Significance Pathogenic
Disease Pseudoneonatal adrenoleukodystrophy
Variation info
Gene ACOX1
CLNDBN Pseudoneonatal adrenoleukodystrophy
Reversed 1
HGVS NC_000017.10:g.73956337_73956354del18
CLNSRC OMIM Allelic Variant
CLNACC RCV000001568.2,