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rs146011150

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs146011150(A;G)
Make rs146011150(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15635507
GeneBTD
is asnp
is mentioned by
dbSNPrs146011150
ebirs146011150
HLIrs146011150
Exacrs146011150
Varsomers146011150
Maprs146011150
PheGenIrs146011150
hapmaprs146011150
1000 genomesrs146011150
hgdprs146011150
ensemblrs146011150
gopubmedrs146011150
geneviewrs146011150
scholarrs146011150
googlers146011150
pharmgkbrs146011150
gwascentralrs146011150
openSNPrs146011150
23andMers146011150
23andMe allrs146011150
SNP Nexus

SNPshotrs146011150
SNPdbers146011150
MSV3drs146011150
GWAS Ctlgrs146011150
Max Magnitude0

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

ClinVar
Risk rs146011150(G;G)
Alt rs146011150(G;G)
Reference rs146011150(A;A)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15677014A>G
CLNSRC ARUP BTD
CLNACC RCV000022030.1,