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rs375712490

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs375712490(G;T)
Make rs375712490(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15641939
GeneBTD
is asnp
is mentioned by
dbSNPrs375712490
ebirs375712490
HLIrs375712490
Exacrs375712490
Varsomers375712490
Maprs375712490
PheGenIrs375712490
hapmaprs375712490
1000 genomesrs375712490
hgdprs375712490
ensemblrs375712490
gopubmedrs375712490
geneviewrs375712490
scholarrs375712490
googlers375712490
pharmgkbrs375712490
gwascentralrs375712490
openSNPrs375712490
23andMers375712490
23andMe allrs375712490
SNP Nexus

SNPshotrs375712490
SNPdbers375712490
MSV3drs375712490
GWAS Ctlgrs375712490
Max Magnitude0
ClinVar
Risk rs375712490(T;T)
Alt rs375712490(T;T)
Reference rs375712490(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15683446G>T
CLNSRC ARUP BTD
CLNACC RCV000021918.1,