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rs138818907

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs138818907(C;T)
Make rs138818907(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645345
GeneBTD
is asnp
is mentioned by
dbSNPrs138818907
ebirs138818907
HLIrs138818907
Exacrs138818907
Varsomers138818907
Maprs138818907
PheGenIrs138818907
hapmaprs138818907
1000 genomesrs138818907
hgdprs138818907
ensemblrs138818907
gopubmedrs138818907
geneviewrs138818907
scholarrs138818907
googlers138818907
pharmgkbrs138818907
gwascentralrs138818907
openSNPrs138818907
23andMers138818907
23andMe allrs138818907
SNP Nexus

SNPshotrs138818907
SNPdbers138818907
MSV3drs138818907
GWAS Ctlgrs138818907
Max Magnitude0
ClinVar
Risk rs138818907(T;T)
Alt rs138818907(T;T)
Reference rs138818907(C;C)
Significance Pathogenic
Disease Biotinidase deficiency not provided
Variation info
Gene BTD
CLNDBN Biotinidase deficiency not provided
Reversed 0
HGVS NC_000003.11:g.15686852C>T
CLNSRC ARUP BTD HGMD
CLNACC RCV000022019.2, RCV000078068.3,