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rs771944310

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs771944310(-;-)
Make rs771944310(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position36936663
GeneHLCS
is asnp
is mentioned by
dbSNPrs771944310
dbSNP (classic)rs771944310
ClinGenrs771944310
ebirs771944310
HLIrs771944310
Exacrs771944310
Gnomadrs771944310
Varsomers771944310
LitVarrs771944310
Maprs771944310
PheGenIrs771944310
Biobankrs771944310
1000 genomesrs771944310
hgdprs771944310
ensemblrs771944310
geneviewrs771944310
scholarrs771944310
googlers771944310
pharmgkbrs771944310
gwascentralrs771944310
openSNPrs771944310
23andMers771944310
SNPshotrs771944310
SNPdbers771944310
MSV3drs771944310
GWAS Ctlgrs771944310
Max Magnitude0
ClinVar
Risk rs771944310(-;-)
Alt rs771944310(-;-)
Reference Rs771944310(C;C)
Significance Pathogenic
Disease not provided Holocarboxylase synthetase deficiency
Variation info
Gene HLCS
CLNDBN not provided Holocarboxylase synthetase deficiency
Reversed 0
HGVS NC_000021.8:g.38308963delC
CLNSRC
CLNACC RCV000185969.2, RCV000410410.1,