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rs397507170

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397507170(A;A)
Make rs397507170(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15635563
GeneBTD
is asnp
is mentioned by
dbSNPrs397507170
ebirs397507170
HLIrs397507170
Exacrs397507170
Varsomers397507170
Maprs397507170
PheGenIrs397507170
hapmaprs397507170
1000 genomesrs397507170
hgdprs397507170
ensemblrs397507170
gopubmedrs397507170
geneviewrs397507170
scholarrs397507170
googlers397507170
pharmgkbrs397507170
gwascentralrs397507170
openSNPrs397507170
23andMers397507170
23andMe allrs397507170
SNP Nexus

SNPshotrs397507170
SNPdbers397507170
MSV3drs397507170
GWAS Ctlgrs397507170
Max Magnitude0
ClinVar
Risk rs397507170(A,T;A,T)
Alt rs397507170(A,T;A,T)
Reference rs397507170(G;G)
Significance Pathogenic
Disease Biotinidase deficiency not provided
Variation info
Gene BTD
CLNDBN Biotinidase deficiency not provided
Reversed 0
HGVS NC_000003.11:g.15677070G>A; NC_000003.11:g.15677070G>T
CLNSRC ARUP BTD
CLNACC RCV000021895.1, RCV000185800.1, RCV000021894.1,