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rs190386869

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs190386869(C;G)
Make rs190386869(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644499
GeneBTD
is asnp
is mentioned by
dbSNPrs190386869
ebirs190386869
HLIrs190386869
Exacrs190386869
Varsomers190386869
Maprs190386869
PheGenIrs190386869
hapmaprs190386869
1000 genomesrs190386869
hgdprs190386869
ensemblrs190386869
gopubmedrs190386869
geneviewrs190386869
scholarrs190386869
googlers190386869
pharmgkbrs190386869
gwascentralrs190386869
openSNPrs190386869
23andMers190386869
23andMe allrs190386869
SNP Nexus

SNPshotrs190386869
SNPdbers190386869
MSV3drs190386869
GWAS Ctlgrs190386869
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs190386869(G,T;G,T)
Alt rs190386869(G,T;G,T)
Reference rs190386869(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.15686006C>T
CLNSRC ARUP BTD
CLNACC RCV000021953.1, RCV000185804.1,