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rs146015592

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs146015592(A;A)
Make rs146015592(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position15644326
GeneBTD
is asnp
is mentioned by
dbSNPrs146015592
ebirs146015592
HLIrs146015592
Exacrs146015592
Varsomers146015592
Maprs146015592
PheGenIrs146015592
hapmaprs146015592
1000 genomesrs146015592
hgdprs146015592
ensemblrs146015592
gopubmedrs146015592
geneviewrs146015592
scholarrs146015592
googlers146015592
pharmgkbrs146015592
gwascentralrs146015592
openSNPrs146015592
23andMers146015592
23andMe allrs146015592
SNP Nexus

SNPshotrs146015592
SNPdbers146015592
MSV3drs146015592
GWAS Ctlgrs146015592
Max Magnitude0
ClinVar
Risk rs146015592(A;A)
Alt rs146015592(A;A)
Reference rs146015592(G;G)
Significance Pathogenic
Disease Biotinidase deficiency not provided
Variation info
Gene BTD
CLNDBN Biotinidase deficiency not provided
Reversed 0
HGVS NC_000003.11:g.15685833G>A
CLNSRC ARUP BTD HGMD
CLNACC RCV000021904.2, RCV000021933.1, RCV000032009.1, RCV000078072.3,