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rs34885143

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs34885143(A;A)
Make rs34885143(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15635512
GeneBTD
is asnp
is mentioned by
dbSNPrs34885143
ebirs34885143
HLIrs34885143
Exacrs34885143
Varsomers34885143
Maprs34885143
PheGenIrs34885143
hapmaprs34885143
1000 genomesrs34885143
hgdprs34885143
ensemblrs34885143
gopubmedrs34885143
geneviewrs34885143
scholarrs34885143
googlers34885143
pharmgkbrs34885143
gwascentralrs34885143
openSNPrs34885143
23andMers34885143
23andMe allrs34885143
SNP Nexus

SNPshotrs34885143
SNPdbers34885143
MSV3drs34885143
GWAS Ctlgrs34885143
GMAF0.003673
Max Magnitude0

minor allele should be reclassified as benign according to [PMID 26990548OA-icon.png]

ClinVar
Risk rs34885143(A;A)
Alt rs34885143(A;A)
Reference rs34885143(G;G)
Significance Pathogenic
Disease Biotinidase deficiency not provided not specified
Variation info
Gene BTD
CLNDBN Biotinidase deficiency not provided not specified
Reversed 0
HGVS NC_000003.11:g.15677019G>A
CLNSRC ARUP BTD
CLNACC RCV000021888.2, RCV000021889.1, RCV000021890.1, RCV000175516.1, RCV000185799.1,