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rs773102942

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs773102942(-;T)
Make rs773102942(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position36936789
GeneHLCS
is asnp
is mentioned by
dbSNPrs773102942
ClinGenrs773102942
ebirs773102942
HLIrs773102942
Exacrs773102942
Varsomers773102942
Maprs773102942
PheGenIrs773102942
hapmaprs773102942
1000 genomesrs773102942
hgdprs773102942
ensemblrs773102942
gopubmedrs773102942
geneviewrs773102942
scholarrs773102942
googlers773102942
pharmgkbrs773102942
gwascentralrs773102942
openSNPrs773102942
23andMers773102942
23andMe allrs773102942
SNP Nexus

SNPshotrs773102942
SNPdbers773102942
MSV3drs773102942
GWAS Ctlgrs773102942
Max Magnitude0
ClinVar
Risk rs773102942(T;T)
Alt rs773102942(T;T)
Reference Rs773102942(-;-)
Significance Pathogenic
Disease Holocarboxylase synthetase deficiency
Variation info
Gene HLCS
CLNDBN Holocarboxylase synthetase deficiency
Reversed 0
HGVS NC_000021.8:g.38309090dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000001990.4,