Rs119478057

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119478057(C;T)
Make rs119478057(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position81264677
GeneBCMO1
is asnp
is mentioned by
dbSNPrs119478057
PheGenIrs119478057
nextbiors119478057
hapmaprs119478057
1000 genomesrs119478057
hgdprs119478057
ensemblrs119478057
gopubmedrs119478057
geneviewrs119478057
scholarrs119478057
googlers119478057
pharmgkbrs119478057
gwascentralrs119478057
openSNPrs119478057
23andMers119478057
23andMe allrs119478057
SNP Nexus

SNPshotrs119478057
SNPdbers119478057
MSV3drs119478057
GMAF0.0009183
Max Magnitude0
OMIM605748
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119478057(T;T)
Alt rs119478057(T;T)
Reference rs119478057(C;C)
Significance Pathogenic
Disease Hypercarotenemia and vitamin a deficiency
Variation info
Gene BCMO1
CLNDBN Hypercarotenemia and vitamin a deficiency, autosomal dominant
Reversed 0
HGVS NC_000016.9:g.81298282C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005038.2,