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

rs398123138

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GGATG;GGATG) 0 common in clinvar
(GGGAT;GGGAT) 0 common in clinvar
Make rs398123138(-;-)
Make rs398123138(-;GGATG)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645364
GeneBTD
is asnp
is mentioned by
dbSNPrs398123138
ebirs398123138
HLIrs398123138
Exacrs398123138
Varsomers398123138
Maprs398123138
PheGenIrs398123138
hapmaprs398123138
1000 genomesrs398123138
hgdprs398123138
ensemblrs398123138
gopubmedrs398123138
geneviewrs398123138
scholarrs398123138
googlers398123138
pharmgkbrs398123138
gwascentralrs398123138
openSNPrs398123138
23andMers398123138
23andMe allrs398123138
SNP Nexus

SNPshotrs398123138
SNPdbers398123138
MSV3drs398123138
GWAS Ctlgrs398123138
Max Magnitude0
ClinVar
Risk rs398123138(;)
Alt rs398123138(;)
Reference rs398123138(GGGAT;GGGAT)
Significance Pathogenic
Disease not provided Biotinidase deficiency
Variation info
Gene BTD
CLNDBN not provided Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15686871_15686875delGGATG
CLNSRC ClinVar
CLNACC RCV000078069.3, RCV000178031.1,