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rs28942109

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28942109(A;A)
Make rs28942109(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position134608443
GeneSAR1B
is asnp
is mentioned by
dbSNPrs28942109
ebirs28942109
HLIrs28942109
Exacrs28942109
Varsomers28942109
Maprs28942109
PheGenIrs28942109
hapmaprs28942109
1000 genomesrs28942109
hgdprs28942109
ensemblrs28942109
gopubmedrs28942109
geneviewrs28942109
scholarrs28942109
googlers28942109
pharmgkbrs28942109
gwascentralrs28942109
openSNPrs28942109
23andMers28942109
23andMe allrs28942109
SNP Nexus

SNPshotrs28942109
SNPdbers28942109
MSV3drs28942109
GWAS Ctlgrs28942109
Max Magnitude0
OMIM607690
DescCHYLOMICRON RETENTION DISEASE
Variant0002
Relatedalso
ClinVar
Risk rs28942109(A;A)
Alt rs28942109(A;A)
Reference rs28942109(G;G)
Significance Pathogenic
Disease Chylomicron retention disease
Variation info
Gene SAR1B
CLNDBN Chylomicron retention disease
Reversed 1
HGVS NC_000005.9:g.133944133C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003057.2,