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rs398122985

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122985(G;T)
Make rs398122985(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position62604236
GeneANGPTL3, DOCK7
is asnp
is mentioned by
dbSNPrs398122985
ebirs398122985
HLIrs398122985
Exacrs398122985
Varsomers398122985
Maprs398122985
PheGenIrs398122985
hapmaprs398122985
1000 genomesrs398122985
hgdprs398122985
ensemblrs398122985
gopubmedrs398122985
geneviewrs398122985
scholarrs398122985
googlers398122985
pharmgkbrs398122985
gwascentralrs398122985
openSNPrs398122985
23andMers398122985
23andMe allrs398122985
SNP Nexus

SNPshotrs398122985
SNPdbers398122985
MSV3drs398122985
GWAS Ctlgrs398122985
Max Magnitude0
ClinVar
Risk rs398122985(T;T)
Alt rs398122985(T;T)
Reference rs398122985(G;G)
Significance Pathogenic
Disease Hypobetalipoproteinemia
Variation info
Gene DOCK7 ANGPTL3
CLNDBN Hypobetalipoproteinemia, familial, 2
Reversed 0
HGVS NC_000001.10:g.63069907G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000077766.4,