Have questions? Visit https://www.reddit.com/r/SNPedia

rs397507171

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397507171(A;A)
Make rs397507171(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position15635624
GeneBTD
is asnp
is mentioned by
dbSNPrs397507171
ebirs397507171
HLIrs397507171
Exacrs397507171
Varsomers397507171
Maprs397507171
PheGenIrs397507171
hapmaprs397507171
1000 genomesrs397507171
hgdprs397507171
ensemblrs397507171
gopubmedrs397507171
geneviewrs397507171
scholarrs397507171
googlers397507171
pharmgkbrs397507171
gwascentralrs397507171
openSNPrs397507171
23andMers397507171
23andMe allrs397507171
SNP Nexus

SNPshotrs397507171
SNPdbers397507171
MSV3drs397507171
GWAS Ctlgrs397507171
Max Magnitude0
ClinVar
Risk rs397507171(A,T;A,T)
Alt rs397507171(A,T;A,T)
Reference rs397507171(C;C)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15677131C>A; NC_000003.11:g.15677131C>T
CLNSRC ARUP BTD
CLNACC RCV000021906.1, RCV000021907.1,