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rs119103228

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103228(A;A)
Make rs119103228(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position36759811
GeneHLCS
is asnp
is mentioned by
dbSNPrs119103228
ebirs119103228
HLIrs119103228
Exacrs119103228
Varsomers119103228
Maprs119103228
PheGenIrs119103228
hapmaprs119103228
1000 genomesrs119103228
hgdprs119103228
ensemblrs119103228
gopubmedrs119103228
geneviewrs119103228
scholarrs119103228
googlers119103228
pharmgkbrs119103228
gwascentralrs119103228
openSNPrs119103228
23andMers119103228
23andMe allrs119103228
SNP Nexus

SNPshotrs119103228
SNPdbers119103228
MSV3drs119103228
GWAS Ctlgrs119103228
Max Magnitude0
OMIM609018
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119103228(A;A)
Alt rs119103228(A;A)
Reference rs119103228(G;G)
Significance Pathogenic
Disease Holocarboxylase synthetase deficiency
Variation info
Gene HLCS
CLNDBN Holocarboxylase synthetase deficiency
Reversed 1
HGVS NC_000021.8:g.38132112C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001985.2,