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rs730882103

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5 Familial Hypercholesterolemia
(A;T) 5 Familial Hypercholesterolemia
Make rs730882103(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11113686
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs730882103
dbSNP (classic)rs730882103
ClinGenrs730882103
ebirs730882103
HLIrs730882103
Exacrs730882103
Gnomadrs730882103
Varsomers730882103
LitVarrs730882103
Maprs730882103
PheGenIrs730882103
Biobankrs730882103
1000 genomesrs730882103
hgdprs730882103
ensemblrs730882103
geneviewrs730882103
scholarrs730882103
googlers730882103
pharmgkbrs730882103
gwascentralrs730882103
openSNPrs730882103
23andMers730882103
SNPshotrs730882103
SNPdbers730882103
MSV3drs730882103
GWAS Ctlgrs730882103
Max Magnitude5
ClinVar
Risk rs730882103(G;G) rs730882103(T;T)
Alt rs730882103(G;G) rs730882103(T;T)
Reference Rs730882103(A;A)
Significance Other
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224362A>G; NC_000019.9:g.11224362A>T
CLNSRC LDLR @ LOVD
CLNACC RCV000161990.1, RCV000237290.1, RCV000237866.1,