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rs112195009

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs112195009(A;A)
Make rs112195009(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15644488
GeneBTD
is asnp
is mentioned by
dbSNPrs112195009
dbSNP (classic)rs112195009
ClinGenrs112195009
ebirs112195009
HLIrs112195009
Exacrs112195009
Gnomadrs112195009
Varsomers112195009
LitVarrs112195009
Maprs112195009
PheGenIrs112195009
Biobankrs112195009
1000 genomesrs112195009
hgdprs112195009
ensemblrs112195009
geneviewrs112195009
scholarrs112195009
googlers112195009
pharmgkbrs112195009
gwascentralrs112195009
openSNPrs112195009
23andMers112195009
SNPshotrs112195009
SNPdbers112195009
MSV3drs112195009
GWAS Ctlgrs112195009
Max Magnitude0
ClinVar
Risk rs112195009(A;A)
Alt rs112195009(A;A)
Reference Rs112195009(G;G)
Significance Pathogenic
Disease Biotinidase deficiency not specified
Variation info
Gene BTD
CLNDBN Biotinidase deficiency not specified
Reversed 0
HGVS NC_000003.11:g.15685995G>A
CLNSRC HGMD
CLNACC RCV000021951.1, RCV000078077.4,