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rs119103230

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103230(A;A)
Make rs119103230(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position36759781
GeneHLCS
is asnp
is mentioned by
dbSNPrs119103230
ebirs119103230
HLIrs119103230
Exacrs119103230
Varsomers119103230
Maprs119103230
PheGenIrs119103230
hapmaprs119103230
1000 genomesrs119103230
hgdprs119103230
ensemblrs119103230
gopubmedrs119103230
geneviewrs119103230
scholarrs119103230
googlers119103230
pharmgkbrs119103230
gwascentralrs119103230
openSNPrs119103230
23andMers119103230
23andMe allrs119103230
SNP Nexus

SNPshotrs119103230
SNPdbers119103230
MSV3drs119103230
GWAS Ctlgrs119103230
Max Magnitude0
OMIM609018
Desc
Variant0005
Relatedalso
ClinVar
Risk rs119103230(A;A)
Alt rs119103230(A;A)
Reference rs119103230(G;G)
Significance Pathogenic
Disease Holocarboxylase synthetase deficiency
Variation info
Gene HLCS
CLNDBN Holocarboxylase synthetase deficiency
Reversed 1
HGVS NC_000021.8:g.38132082C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001987.5,