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rs398122989

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398122989(C;C)
Make rs398122989(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position62602332
GeneANGPTL3, DOCK7
is asnp
is mentioned by
dbSNPrs398122989
ebirs398122989
HLIrs398122989
Exacrs398122989
Varsomers398122989
Maprs398122989
PheGenIrs398122989
hapmaprs398122989
1000 genomesrs398122989
hgdprs398122989
ensemblrs398122989
gopubmedrs398122989
geneviewrs398122989
scholarrs398122989
googlers398122989
pharmgkbrs398122989
gwascentralrs398122989
openSNPrs398122989
23andMers398122989
23andMe allrs398122989
SNP Nexus

SNPshotrs398122989
SNPdbers398122989
MSV3drs398122989
GWAS Ctlgrs398122989
Max Magnitude0
ClinVar
Risk rs398122989(C;C)
Alt rs398122989(C;C)
Reference rs398122989(T;T)
Significance Pathogenic
Disease Hypobetalipoproteinemia
Variation info
Gene DOCK7 ANGPTL3
CLNDBN Hypobetalipoproteinemia, familial, 2
Reversed 0
HGVS NC_000001.10:g.63068003T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000077770.4,