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rs730880131

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880131(G;T)
Make rs730880131(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position11111640
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs730880131
ebirs730880131
HLIrs730880131
Exacrs730880131
Varsomers730880131
Maprs730880131
PheGenIrs730880131
hapmaprs730880131
1000 genomesrs730880131
hgdprs730880131
ensemblrs730880131
gopubmedrs730880131
geneviewrs730880131
scholarrs730880131
googlers730880131
pharmgkbrs730880131
gwascentralrs730880131
openSNPrs730880131
23andMers730880131
23andMe allrs730880131
SNP Nexus

SNPshotrs730880131
SNPdbers730880131
MSV3drs730880131
GWAS Ctlgrs730880131
Max Magnitude0
ClinVar
Risk rs730880131(T;T)
Alt rs730880131(T;T)
Reference rs730880131(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11222316G>A; NC_000019.9:g.11222316G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237186.1, RCV000157291.1,