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rs200327983

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs200327983(A;C)
Make rs200327983(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644902
GeneBTD
is asnp
is mentioned by
dbSNPrs200327983
ebirs200327983
HLIrs200327983
Exacrs200327983
Varsomers200327983
Maprs200327983
PheGenIrs200327983
hapmaprs200327983
1000 genomesrs200327983
hgdprs200327983
ensemblrs200327983
gopubmedrs200327983
geneviewrs200327983
scholarrs200327983
googlers200327983
pharmgkbrs200327983
gwascentralrs200327983
openSNPrs200327983
23andMers200327983
23andMe allrs200327983
SNP Nexus

SNPshotrs200327983
SNPdbers200327983
MSV3drs200327983
GWAS Ctlgrs200327983
Max Magnitude0
ClinVar
Risk rs200327983(C;C)
Alt rs200327983(C;C)
Reference rs200327983(A;A)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686409A>C
CLNSRC ARUP BTD
CLNACC RCV000022033.1,