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rs5930

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs5930(A;G)
Make rs5930(G;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position11113589
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs5930
ebirs5930
HLIrs5930
Exacrs5930
Varsomers5930
Maprs5930
PheGenIrs5930
hapmaprs5930
1000 genomesrs5930
hgdprs5930
ensemblrs5930
gopubmedrs5930
geneviewrs5930
scholarrs5930
googlers5930
pharmgkbrs5930
gwascentralrs5930
openSNPrs5930
23andMers5930
23andMe allrs5930
SNP Nexus

SNPshotrs5930
SNPdbers5930
MSV3drs5930
GWAS Ctlgrs5930
Max Magnitude0
? (A;A) (A;G) (G;G) 28

[PMID 25234566] Homozygous familial hypercholesterolemia: the c.1055G>A mutation in the LDLR gene and clinical heterogeneity


ClinVar
Risk rs5930(G;G)
Alt rs5930(G;G)
Reference rs5930(A;A)
Significance Non-pathogenic
Disease not specified Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN not specified Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224265A>G
CLNSRC LDLR @ LOVD
CLNACC RCV000182337.2, RCV000237328.1,