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rs1057516035

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516035(C;C)
Make rs1057516035(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position36936723
GeneHLCS
is asnp
is mentioned by
dbSNPrs1057516035
dbSNP (old)rs1057516035
ClinGenrs1057516035
ebirs1057516035
HLIrs1057516035
Exacrs1057516035
Gnomadrs1057516035
Varsomers1057516035
LitVarrs1057516035
Maprs1057516035
PheGenIrs1057516035
Biobankrs1057516035
1000 genomesrs1057516035
hgdprs1057516035
ensemblrs1057516035
gopubmedrs1057516035
geneviewrs1057516035
scholarrs1057516035
googlers1057516035
pharmgkbrs1057516035
gwascentralrs1057516035
openSNPrs1057516035
23andMers1057516035
23andMe allrs1057516035
SNPshotrs1057516035
SNPdbers1057516035
MSV3drs1057516035
GWAS Ctlgrs1057516035
Max Magnitude0
ClinVar
Risk rs1057516035(C;C)
Alt rs1057516035(C;C)
Reference Rs1057516035(G;G)
Significance Probable-Pathogenic
Disease Holocarboxylase synthetase deficiency
Variation info
Gene HLCS
CLNDBN Holocarboxylase synthetase deficiency
Reversed 1
HGVS NC_000021.8:g.38309023C>G
CLNSRC
CLNACC RCV000408618.1,