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rs767533946

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(D;D) 0 common genotype
Make rs767533946(-;A)
Make rs767533946(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position36765158
GeneHLCS
is asnp
is mentioned by
dbSNPrs767533946
dbSNP (classic)rs767533946
ClinGenrs767533946
ebirs767533946
HLIrs767533946
Exacrs767533946
Gnomadrs767533946
Varsomers767533946
LitVarrs767533946
Maprs767533946
PheGenIrs767533946
Biobankrs767533946
1000 genomesrs767533946
hgdprs767533946
ensemblrs767533946
geneviewrs767533946
scholarrs767533946
googlers767533946
pharmgkbrs767533946
gwascentralrs767533946
openSNPrs767533946
23andMers767533946
SNPshotrs767533946
SNPdbers767533946
MSV3drs767533946
GWAS Ctlgrs767533946
Max Magnitude0
ClinVar
Risk rs767533946(A;A)
Alt rs767533946(A;A)
Reference Rs767533946(-;-)
Significance Probable-Pathogenic
Disease Holocarboxylase synthetase deficiency
Variation info
Gene HLCS
CLNDBN Holocarboxylase synthetase deficiency
Reversed 0
HGVS NC_000021.8:g.38137460dupA
CLNSRC
CLNACC RCV000411747.1,