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rs373249212

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs373249212(G;T)
Make rs373249212(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position15635689
GeneBTD
is asnp
is mentioned by
dbSNPrs373249212
dbSNP (classic)rs373249212
ClinGenrs373249212
ebirs373249212
HLIrs373249212
Exacrs373249212
Gnomadrs373249212
Varsomers373249212
LitVarrs373249212
Maprs373249212
PheGenIrs373249212
Biobankrs373249212
1000 genomesrs373249212
hgdprs373249212
ensemblrs373249212
geneviewrs373249212
scholarrs373249212
googlers373249212
pharmgkbrs373249212
gwascentralrs373249212
openSNPrs373249212
23andMers373249212
SNPshotrs373249212
SNPdbers373249212
MSV3drs373249212
GWAS Ctlgrs373249212
Max Magnitude0
ClinVar
Risk rs373249212(A;A) rs373249212(T;T)
Alt rs373249212(A;A) rs373249212(T;T)
Reference Rs373249212(G;G)
Significance Probable-Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15677196G>T
CLNSRC
CLNACC RCV000409760.1,