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rs606231236

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;GG) 3 Carrier of a hypobetalipoproteinemia mutation
Make rs606231236(GG;GG)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position21033517
GeneAPOB
is asnp
is mentioned by
dbSNPrs606231236
dbSNP (classic)rs606231236
ClinGenrs606231236
ebirs606231236
HLIrs606231236
Exacrs606231236
Gnomadrs606231236
Varsomers606231236
LitVarrs606231236
Maprs606231236
PheGenIrs606231236
Biobankrs606231236
1000 genomesrs606231236
hgdprs606231236
ensemblrs606231236
geneviewrs606231236
scholarrs606231236
googlers606231236
pharmgkbrs606231236
gwascentralrs606231236
openSNPrs606231236
23andMers606231236
SNPshotrs606231236
SNPdbers606231236
MSV3drs606231236
GWAS Ctlgrs606231236
Max Magnitude3
ClinVar
Risk rs606231236(GG;GG)
Alt rs606231236(GG;GG)
Reference Rs606231236(-;-)
Significance Pathogenic
Disease Familial hypobetalipoproteinemia
Variation info
Gene APOB
CLNDBN Familial hypobetalipoproteinemia
Reversed 1
HGVS NC_000002.11:g.21256390_21256391dupCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000032601.27,