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

rs794727957

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727957(C;T)
Make rs794727957(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position36765068
GeneHLCS
is asnp
is mentioned by
dbSNPrs794727957
ebirs794727957
HLIrs794727957
Exacrs794727957
Varsomers794727957
Maprs794727957
PheGenIrs794727957
hapmaprs794727957
1000 genomesrs794727957
hgdprs794727957
ensemblrs794727957
gopubmedrs794727957
geneviewrs794727957
scholarrs794727957
googlers794727957
pharmgkbrs794727957
gwascentralrs794727957
openSNPrs794727957
23andMers794727957
23andMe allrs794727957
SNP Nexus

SNPshotrs794727957
SNPdbers794727957
MSV3drs794727957
GWAS Ctlgrs794727957
Max Magnitude0
ClinVar
Risk rs794727957(T;T)
Alt rs794727957(T;T)
Reference rs794727957(C;C)
Significance Pathogenic
Disease Holocarboxylase synthetase deficiency
Variation info
Gene HLCS
CLNDBN Holocarboxylase synthetase deficiency
Reversed 1
HGVS NC_000021.8:g.38137369G>A
CLNSRC
CLNACC RCV000180500.1,