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rs375495026

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs375495026(A;A)
Make rs375495026(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11107433
GeneLDLR
is asnp
is mentioned by
dbSNPrs375495026
ebirs375495026
HLIrs375495026
Exacrs375495026
Varsomers375495026
Maprs375495026
PheGenIrs375495026
hapmaprs375495026
1000 genomesrs375495026
hgdprs375495026
ensemblrs375495026
gopubmedrs375495026
geneviewrs375495026
scholarrs375495026
googlers375495026
pharmgkbrs375495026
gwascentralrs375495026
openSNPrs375495026
23andMers375495026
23andMe allrs375495026
SNP Nexus

SNPshotrs375495026
SNPdbers375495026
MSV3drs375495026
GWAS Ctlgrs375495026
Max Magnitude0
ClinVar
Risk rs375495026(A;A)
Alt rs375495026(A;A)
Reference rs375495026(G;G)
Significance Probable-Pathogenic
Disease Hypercholesterolaemia Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Hypercholesterolaemia Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11218109G>A; NC_000019.9:g.11218109G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000148587.1, RCV000237748.1, RCV000238295.1,