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rs397514341

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514341(A;G)
Make rs397514341(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15635573
GeneBTD
is asnp
is mentioned by
dbSNPrs397514341
ebirs397514341
HLIrs397514341
Exacrs397514341
Varsomers397514341
Maprs397514341
PheGenIrs397514341
hapmaprs397514341
1000 genomesrs397514341
hgdprs397514341
ensemblrs397514341
gopubmedrs397514341
geneviewrs397514341
scholarrs397514341
googlers397514341
pharmgkbrs397514341
gwascentralrs397514341
openSNPrs397514341
23andMers397514341
23andMe allrs397514341
SNP Nexus

SNPshotrs397514341
SNPdbers397514341
MSV3drs397514341
GWAS Ctlgrs397514341
Max Magnitude0
ClinVar
Risk rs397514341(G;G)
Alt rs397514341(G;G)
Reference rs397514341(A;A)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15677080A>G
CLNSRC ARUP BTD
CLNACC RCV000021898.1,