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rs143058480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs143058480(A;G)
Make rs143058480(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position15601893
GeneBTD, HACL1
is asnp
is mentioned by
dbSNPrs143058480
dbSNP (old)rs143058480
ClinGenrs143058480
ebirs143058480
HLIrs143058480
Exacrs143058480
Gnomadrs143058480
Varsomers143058480
Maprs143058480
PheGenIrs143058480
Biobankrs143058480
1000 genomesrs143058480
hgdprs143058480
ensemblrs143058480
gopubmedrs143058480
geneviewrs143058480
scholarrs143058480
googlers143058480
pharmgkbrs143058480
gwascentralrs143058480
openSNPrs143058480
23andMers143058480
23andMe allrs143058480
SNPshotrs143058480
SNPdbers143058480
MSV3drs143058480
GWAS Ctlgrs143058480
Max Magnitude0
ClinVar
Risk rs143058480(G;G) rs143058480(T;T)
Alt rs143058480(G;G) rs143058480(T;T)
Reference Rs143058480(A;A)
Significance Probable-Pathogenic
Disease Biotinidase deficiency
Variation info
Gene HACL1 BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15643400A>T
CLNSRC
CLNACC RCV000411121.1,