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rs28934602

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28934602(G;G)
Make rs28934602(G;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position36936798
GeneHLCS
is asnp
is mentioned by
dbSNPrs28934602
ebirs28934602
HLIrs28934602
Exacrs28934602
Varsomers28934602
Maprs28934602
PheGenIrs28934602
hapmaprs28934602
1000 genomesrs28934602
hgdprs28934602
ensemblrs28934602
gopubmedrs28934602
geneviewrs28934602
scholarrs28934602
googlers28934602
pharmgkbrs28934602
gwascentralrs28934602
openSNPrs28934602
23andMers28934602
23andMe allrs28934602
SNP Nexus

SNPshotrs28934602
SNPdbers28934602
MSV3drs28934602
GWAS Ctlgrs28934602
Max Magnitude0
OMIM609018
DescHOLOCARBOXYLASE SYNTHETASE DEFICIENCY
Variant0009
Relatedalso


ClinVar
Risk rs28934602(G;G)
Alt rs28934602(G;G)
Reference rs28934602(T;T)
Significance Pathogenic
Disease Holocarboxylase synthetase deficiency
Variation info
Gene HLCS
CLNDBN Holocarboxylase synthetase deficiency
Reversed 1
HGVS NC_000021.8:g.38309098A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001991.2,