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rs119103232

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103232(A;A)
Make rs119103232(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15635479
GeneBTD, GAPDHP31
is asnp
is mentioned by
dbSNPrs119103232
ebirs119103232
HLIrs119103232
Exacrs119103232
Varsomers119103232
Maprs119103232
PheGenIrs119103232
hapmaprs119103232
1000 genomesrs119103232
hgdprs119103232
ensemblrs119103232
gopubmedrs119103232
geneviewrs119103232
scholarrs119103232
googlers119103232
pharmgkbrs119103232
gwascentralrs119103232
openSNPrs119103232
23andMers119103232
23andMe allrs119103232
SNP Nexus

SNPshotrs119103232
SNPdbers119103232
MSV3drs119103232
GWAS Ctlgrs119103232
Max Magnitude0
OMIM609019
Desc
Variant0004
Relatedalso
ClinVar
Risk rs119103232(A;A)
Alt rs119103232(A;A)
Reference rs119103232(G;G)
Significance Pathogenic
Disease Biotinidase deficiency
Variation info
Gene BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15676986G>A
CLNSRC ARUP BTD OMIM Allelic Variant
CLNACC RCV000001976.1,