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rs557344672

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs557344672(C;G)
Make rs557344672(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105448
GeneLDLR
is asnp
is mentioned by
dbSNPrs557344672
ebirs557344672
HLIrs557344672
Exacrs557344672
Varsomers557344672
Maprs557344672
PheGenIrs557344672
hapmaprs557344672
1000 genomesrs557344672
hgdprs557344672
ensemblrs557344672
gopubmedrs557344672
geneviewrs557344672
scholarrs557344672
googlers557344672
pharmgkbrs557344672
gwascentralrs557344672
openSNPrs557344672
23andMers557344672
23andMe allrs557344672
SNP Nexus

SNPshotrs557344672
SNPdbers557344672
MSV3drs557344672
GWAS Ctlgrs557344672
Max Magnitude0
ClinVar
Risk rs557344672(G,T;G,T)
Alt rs557344672(G,T;G,T)
Reference rs557344672(C;C)
Significance Probable-Pathogenic
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216124C>G
CLNSRC LDLR @ LOVD
CLNACC RCV000161959.1, RCV000237262.1,