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rs397514375

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514375(A;A)
Make rs397514375(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644451
GeneBTD
is asnp
is mentioned by
dbSNPrs397514375
ebirs397514375
HLIrs397514375
Exacrs397514375
Varsomers397514375
Maprs397514375
PheGenIrs397514375
hapmaprs397514375
1000 genomesrs397514375
hgdprs397514375
ensemblrs397514375
gopubmedrs397514375
geneviewrs397514375
scholarrs397514375
googlers397514375
pharmgkbrs397514375
gwascentralrs397514375
openSNPrs397514375
23andMers397514375
23andMe allrs397514375
SNP Nexus

SNPshotrs397514375
SNPdbers397514375
MSV3drs397514375
GWAS Ctlgrs397514375
Max Magnitude0
ClinVar
Risk rs397514375(A;A)
Alt rs397514375(A;A)
Reference rs397514375(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15685958G>A
CLNSRC ARUP BTD
CLNACC RCV000021947.1,