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rs773398782

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs773398782(C;T)
Make rs773398782(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position36765148
GeneHLCS
is asnp
is mentioned by
dbSNPrs773398782
dbSNP (classic)rs773398782
ClinGenrs773398782
ebirs773398782
HLIrs773398782
Exacrs773398782
Gnomadrs773398782
Varsomers773398782
LitVarrs773398782
Maprs773398782
PheGenIrs773398782
Biobankrs773398782
1000 genomesrs773398782
hgdprs773398782
ensemblrs773398782
geneviewrs773398782
scholarrs773398782
googlers773398782
pharmgkbrs773398782
gwascentralrs773398782
openSNPrs773398782
23andMers773398782
SNPshotrs773398782
SNPdbers773398782
MSV3drs773398782
GWAS Ctlgrs773398782
Max Magnitude0
ClinVar
Risk rs773398782(T;T)
Alt rs773398782(T;T)
Reference Rs773398782(C;C)
Significance Probable-Pathogenic
Disease Holocarboxylase synthetase deficiency
Variation info
Gene HLCS
CLNDBN Holocarboxylase synthetase deficiency
Reversed 0
HGVS NC_000021.8:g.38137449C>T
CLNSRC
CLNACC RCV000492067.1,