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rs730880052

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880052(A;A)
Make rs730880052(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position21006681
GeneAPOB
is asnp
is mentioned by
dbSNPrs730880052
ebirs730880052
HLIrs730880052
Exacrs730880052
Varsomers730880052
Maprs730880052
PheGenIrs730880052
hapmaprs730880052
1000 genomesrs730880052
hgdprs730880052
ensemblrs730880052
gopubmedrs730880052
geneviewrs730880052
scholarrs730880052
googlers730880052
pharmgkbrs730880052
gwascentralrs730880052
openSNPrs730880052
23andMers730880052
23andMe allrs730880052
SNP Nexus

SNPshotrs730880052
SNPdbers730880052
MSV3drs730880052
GWAS Ctlgrs730880052
Max Magnitude0
ClinVar
Risk rs730880052(A;A)
Alt rs730880052(A;A)
Reference rs730880052(C;C)
Significance Probable-Pathogenic
Disease Hypercholesterolemia
Variation info
Gene APOB
CLNDBN Hypercholesterolemia, autosomal dominant, type B
Reversed 1
HGVS NC_000002.11:g.21229553G>T
CLNSRC
CLNACC RCV000157117.1,