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rs387907315

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs387907315(-;-)
Make rs387907315(-;CT)
Make rs387907315(CT;CT)
ReferenceGRCh38 38.1/141
Chromosome14
Position74286706
GeneABCD4
is asnp
is mentioned by
dbSNPrs387907315
ebirs387907315
HLIrs387907315
Exacrs387907315
Varsomers387907315
Maprs387907315
PheGenIrs387907315
hapmaprs387907315
1000 genomesrs387907315
hgdprs387907315
ensemblrs387907315
gopubmedrs387907315
geneviewrs387907315
scholarrs387907315
googlers387907315
pharmgkbrs387907315
gwascentralrs387907315
openSNPrs387907315
23andMers387907315
23andMe allrs387907315
SNP Nexus

SNPshotrs387907315
SNPdbers387907315
MSV3drs387907315
GWAS Ctlgrs387907315
Max Magnitude0
ClinVar
Risk rs387907315(CT;CT)
Alt rs387907315(CT;CT)
Reference rs387907315(;)
Significance Pathogenic
Disease METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA
Variation info
Gene ABCD4
CLNDBN METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
Reversed 1
HGVS NC_000014.8:g.74753409_74753410insAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000030860.2,