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rs200785483

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200785483(G;T)
Make rs200785483(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position62597951
GeneANGPTL3, DOCK7
is asnp
is mentioned by
dbSNPrs200785483
ebirs200785483
HLIrs200785483
Exacrs200785483
Varsomers200785483
Maprs200785483
PheGenIrs200785483
hapmaprs200785483
1000 genomesrs200785483
hgdprs200785483
ensemblrs200785483
gopubmedrs200785483
geneviewrs200785483
scholarrs200785483
googlers200785483
pharmgkbrs200785483
gwascentralrs200785483
openSNPrs200785483
23andMers200785483
23andMe allrs200785483
SNP Nexus

SNPshotrs200785483
SNPdbers200785483
MSV3drs200785483
GWAS Ctlgrs200785483
Max Magnitude0
ClinVar
Risk rs200785483(A,T;A,T)
Alt rs200785483(A,T;A,T)
Reference rs200785483(G;G)
Significance Pathogenic
Disease Hypobetalipoproteinemia
Variation info
Gene DOCK7 ANGPTL3
CLNDBN Hypobetalipoproteinemia, familial, 2
Reversed 0
HGVS NC_000001.10:g.63063622G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005685.3,