Have questions? Visit https://www.reddit.com/r/SNPedia

rs730882086

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882086(A;A)
Make rs730882086(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105571
GeneLDLR
is asnp
is mentioned by
dbSNPrs730882086
ebirs730882086
HLIrs730882086
Exacrs730882086
Varsomers730882086
Maprs730882086
PheGenIrs730882086
hapmaprs730882086
1000 genomesrs730882086
hgdprs730882086
ensemblrs730882086
gopubmedrs730882086
geneviewrs730882086
scholarrs730882086
googlers730882086
pharmgkbrs730882086
gwascentralrs730882086
openSNPrs730882086
23andMers730882086
23andMe allrs730882086
SNP Nexus

SNPshotrs730882086
SNPdbers730882086
MSV3drs730882086
GWAS Ctlgrs730882086
Max Magnitude0
ClinVar
Risk rs730882086(A,T;A,T)
Alt rs730882086(A,T;A,T)
Reference rs730882086(G;G)
Significance Probable-Pathogenic
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216247G>A; NC_000019.9:g.11216247G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000161963.1, RCV000238340.1, RCV000237208.1,