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rs201023772

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs201023772(A;G)
Make rs201023772(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15645061
GeneBTD
is asnp
is mentioned by
dbSNPrs201023772
dbSNP (classic)rs201023772
ClinGenrs201023772
ebirs201023772
HLIrs201023772
Exacrs201023772
Gnomadrs201023772
Varsomers201023772
LitVarrs201023772
Maprs201023772
PheGenIrs201023772
Biobankrs201023772
1000 genomesrs201023772
hgdprs201023772
ensemblrs201023772
geneviewrs201023772
scholarrs201023772
googlers201023772
pharmgkbrs201023772
gwascentralrs201023772
openSNPrs201023772
23andMers201023772
SNPshotrs201023772
SNPdbers201023772
MSV3drs201023772
GWAS Ctlgrs201023772
Max Magnitude0
ClinVar
Risk rs201023772(G;G)
Alt rs201023772(G;G)
Reference Rs201023772(A;A)
Significance Pathogenic
Disease Biotinidase deficiency not specified
Variation info
Gene BTD
CLNDBN Biotinidase deficiency not specified
Reversed 0
HGVS NC_000003.11:g.15686568A>G
CLNSRC ARUP BTD
CLNACC RCV000021987.1, RCV000405919.1,