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rs119103231

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103231(A;A)
Make rs119103231(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position36765044
GeneHLCS
is asnp
is mentioned by
dbSNPrs119103231
ebirs119103231
HLIrs119103231
Exacrs119103231
Varsomers119103231
Maprs119103231
PheGenIrs119103231
hapmaprs119103231
1000 genomesrs119103231
hgdprs119103231
ensemblrs119103231
gopubmedrs119103231
geneviewrs119103231
scholarrs119103231
googlers119103231
pharmgkbrs119103231
gwascentralrs119103231
openSNPrs119103231
23andMers119103231
23andMe allrs119103231
SNP Nexus

SNPshotrs119103231
SNPdbers119103231
MSV3drs119103231
GWAS Ctlgrs119103231
Max Magnitude0
OMIM609018
Desc
Variant0006
Relatedalso
ClinVar
Risk rs119103231(A;A)
Alt rs119103231(A;A)
Reference rs119103231(G;G)
Significance Pathogenic
Disease Holocarboxylase synthetase deficiency not provided
Variation info
Gene HLCS
CLNDBN Holocarboxylase synthetase deficiency not provided
Reversed 1
HGVS NC_000021.8:g.38137345C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001988.3, RCV000185961.2,