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rs398122986

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398122986(-;-)
Make rs398122986(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position62597621
GeneANGPTL3, DOCK7
is asnp
is mentioned by
dbSNPrs398122986
ebirs398122986
HLIrs398122986
Exacrs398122986
Varsomers398122986
Maprs398122986
PheGenIrs398122986
hapmaprs398122986
1000 genomesrs398122986
hgdprs398122986
ensemblrs398122986
gopubmedrs398122986
geneviewrs398122986
scholarrs398122986
googlers398122986
pharmgkbrs398122986
gwascentralrs398122986
openSNPrs398122986
23andMers398122986
23andMe allrs398122986
SNP Nexus

SNPshotrs398122986
SNPdbers398122986
MSV3drs398122986
GWAS Ctlgrs398122986
Max Magnitude0
ClinVar
Risk rs398122986(;)
Alt rs398122986(;)
Reference rs398122986(A;A)
Significance Pathogenic
Disease Hypobetalipoproteinemia
Variation info
Gene DOCK7 ANGPTL3
CLNDBN Hypobetalipoproteinemia, familial, 2
Reversed 0
HGVS NC_000001.10:g.63063292delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000077767.4,