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rs397514379

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514379(C;C)
Make rs397514379(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644510
GeneBTD
is asnp
is mentioned by
dbSNPrs397514379
ebirs397514379
HLIrs397514379
Exacrs397514379
Varsomers397514379
Maprs397514379
PheGenIrs397514379
hapmaprs397514379
1000 genomesrs397514379
hgdprs397514379
ensemblrs397514379
gopubmedrs397514379
geneviewrs397514379
scholarrs397514379
googlers397514379
pharmgkbrs397514379
gwascentralrs397514379
openSNPrs397514379
23andMers397514379
23andMe allrs397514379
SNP Nexus

SNPshotrs397514379
SNPdbers397514379
MSV3drs397514379
GWAS Ctlgrs397514379
Max Magnitude0
ClinVar
Risk rs397514379(A,C;A,C)
Alt rs397514379(A,C;A,C)
Reference rs397514379(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686017G>C
CLNSRC ARUP BTD
CLNACC RCV000021956.1,