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rs531005522

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs531005522(C;G)
Make rs531005522(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11113530
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs531005522
ebirs531005522
HLIrs531005522
Exacrs531005522
Varsomers531005522
Maprs531005522
PheGenIrs531005522
hapmaprs531005522
1000 genomesrs531005522
hgdprs531005522
ensemblrs531005522
gopubmedrs531005522
geneviewrs531005522
scholarrs531005522
googlers531005522
pharmgkbrs531005522
gwascentralrs531005522
openSNPrs531005522
23andMers531005522
23andMe allrs531005522
SNP Nexus

SNPshotrs531005522
SNPdbers531005522
MSV3drs531005522
GWAS Ctlgrs531005522
Max Magnitude0
ClinVar
Risk rs531005522(G;G)
Alt rs531005522(G;G)
Reference rs531005522(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224206C>G
CLNSRC LDLR @ LOVD
CLNACC RCV000238316.1,