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rs398122987

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AACT;AACT) 0 common in clinvar
Make rs398122987(-;-)
Make rs398122987(-;AACT)
ReferenceGRCh38 38.1/141
Chromosome1
Position62598005
GeneANGPTL3, DOCK7
is asnp
is mentioned by
dbSNPrs398122987
ebirs398122987
HLIrs398122987
Exacrs398122987
Varsomers398122987
Maprs398122987
PheGenIrs398122987
hapmaprs398122987
1000 genomesrs398122987
hgdprs398122987
ensemblrs398122987
gopubmedrs398122987
geneviewrs398122987
scholarrs398122987
googlers398122987
pharmgkbrs398122987
gwascentralrs398122987
openSNPrs398122987
23andMers398122987
23andMe allrs398122987
SNP Nexus

SNPshotrs398122987
SNPdbers398122987
MSV3drs398122987
GWAS Ctlgrs398122987
Max Magnitude0
ClinVar
Risk rs398122987(;)
Alt rs398122987(;)
Reference rs398122987(AACT;AACT)
Significance Pathogenic
Disease Hypobetalipoproteinemia
Variation info
Gene DOCK7 ANGPTL3
CLNDBN Hypobetalipoproteinemia, familial, 2
Reversed 0
HGVS NC_000001.10:g.63063676_63063679delAACT
CLNSRC OMIM Allelic Variant
CLNACC RCV000077768.5,