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rs119103229

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119103229(C;T)
Make rs119103229(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position36765170
GeneHLCS
is asnp
is mentioned by
dbSNPrs119103229
ebirs119103229
HLIrs119103229
Exacrs119103229
Varsomers119103229
Maprs119103229
PheGenIrs119103229
hapmaprs119103229
1000 genomesrs119103229
hgdprs119103229
ensemblrs119103229
gopubmedrs119103229
geneviewrs119103229
scholarrs119103229
googlers119103229
pharmgkbrs119103229
gwascentralrs119103229
openSNPrs119103229
23andMers119103229
23andMe allrs119103229
SNP Nexus

SNPshotrs119103229
SNPdbers119103229
MSV3drs119103229
GWAS Ctlgrs119103229
Max Magnitude0
OMIM609018
Desc
Variant0004
Relatedalso
ClinVar
Risk rs119103229(T;T)
Alt rs119103229(T;T)
Reference rs119103229(C;C)
Significance Pathogenic
Disease Holocarboxylase synthetase deficiency
Variation info
Gene HLCS
CLNDBN Holocarboxylase synthetase deficiency
Reversed 1
HGVS NC_000021.8:g.38137471G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001986.4,