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rs397514338

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514338(G;T)
Make rs397514338(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15635539
GeneBTD
is asnp
is mentioned by
dbSNPrs397514338
ebirs397514338
HLIrs397514338
Exacrs397514338
Varsomers397514338
Maprs397514338
PheGenIrs397514338
hapmaprs397514338
1000 genomesrs397514338
hgdprs397514338
ensemblrs397514338
gopubmedrs397514338
geneviewrs397514338
scholarrs397514338
googlers397514338
pharmgkbrs397514338
gwascentralrs397514338
openSNPrs397514338
23andMers397514338
23andMe allrs397514338
SNP Nexus

SNPshotrs397514338
SNPdbers397514338
MSV3drs397514338
GWAS Ctlgrs397514338
Max Magnitude0
ClinVar
Risk rs397514338(A,T;A,T)
Alt rs397514338(A,T;A,T)
Reference rs397514338(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15677046G>T
CLNSRC ARUP BTD
CLNACC RCV000021892.1,