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rs397514367

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514367(G;T)
Make rs397514367(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644384
GeneBTD
is asnp
is mentioned by
dbSNPrs397514367
ebirs397514367
HLIrs397514367
Exacrs397514367
Varsomers397514367
Maprs397514367
PheGenIrs397514367
hapmaprs397514367
1000 genomesrs397514367
hgdprs397514367
ensemblrs397514367
gopubmedrs397514367
geneviewrs397514367
scholarrs397514367
googlers397514367
pharmgkbrs397514367
gwascentralrs397514367
openSNPrs397514367
23andMers397514367
23andMe allrs397514367
SNP Nexus

SNPshotrs397514367
SNPdbers397514367
MSV3drs397514367
GWAS Ctlgrs397514367
Max Magnitude0
ClinVar
Risk rs397514367(T;T)
Alt rs397514367(T;T)
Reference rs397514367(G;G)
Significance Pathogenic
Disease Biotinidase deficiency not provided
Variation info
Gene BTD
CLNDBN Biotinidase deficiency not provided
Reversed 0
HGVS NC_000003.11:g.15685891G>T
CLNSRC ARUP BTD HGMD
CLNACC RCV000021938.2, RCV000078074.3,