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rs1057516440

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516440(A;A)
Make rs1057516440(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position15601895
GeneBTD, HACL1
is asnp
is mentioned by
dbSNPrs1057516440
dbSNP (old)rs1057516440
ClinGenrs1057516440
ebirs1057516440
HLIrs1057516440
Exacrs1057516440
Gnomadrs1057516440
Varsomers1057516440
Maprs1057516440
PheGenIrs1057516440
Biobankrs1057516440
1000 genomesrs1057516440
hgdprs1057516440
ensemblrs1057516440
gopubmedrs1057516440
geneviewrs1057516440
scholarrs1057516440
googlers1057516440
pharmgkbrs1057516440
gwascentralrs1057516440
openSNPrs1057516440
23andMers1057516440
23andMe allrs1057516440
SNPshotrs1057516440
SNPdbers1057516440
MSV3drs1057516440
GWAS Ctlgrs1057516440
Max Magnitude0
ClinVar
Risk rs1057516440(A;A) rs1057516440(C;C) rs1057516440(T;T)
Alt rs1057516440(A;A) rs1057516440(C;C) rs1057516440(T;T)
Reference Rs1057516440(G;G)
Significance Probable-Pathogenic
Disease Biotinidase deficiency
Variation info
Gene HACL1 BTD
CLNDBN Biotinidase deficiency
Reversed 0
HGVS NC_000003.11:g.15643402G>A; NC_000003.11:g.15643402G>C; NC_000003.11:g.15643402G>T
CLNSRC
CLNACC RCV000409752.1, RCV000410337.1, RCV000411884.1,