Have questions? Visit https://www.reddit.com/r/SNPedia

rs753887925

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs753887925(C;T)
Make rs753887925(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position36767213
GeneHLCS
is asnp
is mentioned by
dbSNPrs753887925
ebirs753887925
HLIrs753887925
Exacrs753887925
Varsomers753887925
Maprs753887925
PheGenIrs753887925
hapmaprs753887925
1000 genomesrs753887925
hgdprs753887925
ensemblrs753887925
gopubmedrs753887925
geneviewrs753887925
scholarrs753887925
googlers753887925
pharmgkbrs753887925
gwascentralrs753887925
openSNPrs753887925
23andMers753887925
23andMe allrs753887925
SNP Nexus

SNPshotrs753887925
SNPdbers753887925
MSV3drs753887925
GWAS Ctlgrs753887925
Max Magnitude0
ClinVar
Risk rs753887925(T;T)
Alt rs753887925(T;T)
Reference rs753887925(C;C)
Significance Pathogenic
Disease Holocarboxylase synthetase deficiency
Variation info
Gene HLCS
CLNDBN Holocarboxylase synthetase deficiency
Reversed 0
HGVS NC_000021.8:g.38139514C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001989.4,