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rs28942110

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28942110(A;A)
Make rs28942110(A;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position134607010
GeneSAR1B
is asnp
is mentioned by
dbSNPrs28942110
ebirs28942110
HLIrs28942110
Exacrs28942110
Varsomers28942110
Maprs28942110
PheGenIrs28942110
hapmaprs28942110
1000 genomesrs28942110
hgdprs28942110
ensemblrs28942110
gopubmedrs28942110
geneviewrs28942110
scholarrs28942110
googlers28942110
pharmgkbrs28942110
gwascentralrs28942110
openSNPrs28942110
23andMers28942110
23andMe allrs28942110
SNP Nexus

SNPshotrs28942110
SNPdbers28942110
MSV3drs28942110
GWAS Ctlgrs28942110
Max Magnitude0
OMIM607690
DescCHYLOMICRON RETENTION DISEASE
Variant0004
Relatedalso


ClinVar
Risk rs28942110(A;A)
Alt rs28942110(A;A)
Reference rs28942110(T;T)
Significance Pathogenic
Disease Chylomicron retention disease
Variation info
Gene SAR1B
CLNDBN Chylomicron retention disease
Reversed 1
HGVS NC_000005.9:g.133942700A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003059.2,