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rs119103227

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119103227(C;C)
Make rs119103227(C;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position36936735
GeneHLCS
is asnp
is mentioned by
dbSNPrs119103227
ebirs119103227
HLIrs119103227
Exacrs119103227
Varsomers119103227
Maprs119103227
PheGenIrs119103227
hapmaprs119103227
1000 genomesrs119103227
hgdprs119103227
ensemblrs119103227
gopubmedrs119103227
geneviewrs119103227
scholarrs119103227
googlers119103227
pharmgkbrs119103227
gwascentralrs119103227
openSNPrs119103227
23andMers119103227
23andMe allrs119103227
SNP Nexus

SNPshotrs119103227
SNPdbers119103227
MSV3drs119103227
GWAS Ctlgrs119103227
Max Magnitude0
OMIM609018
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119103227(C;C)
Alt rs119103227(C;C)
Reference rs119103227(T;T)
Significance Pathogenic
Disease Holocarboxylase synthetase deficiency
Variation info
Gene HLCS
CLNDBN Holocarboxylase synthetase deficiency
Reversed 1
HGVS NC_000021.8:g.38309035A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001984.4,