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rs201102461

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201102461(A;A)
Make rs201102461(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105250
GeneLDLR
is asnp
is mentioned by
dbSNPrs201102461
ebirs201102461
HLIrs201102461
Exacrs201102461
Varsomers201102461
Maprs201102461
PheGenIrs201102461
hapmaprs201102461
1000 genomesrs201102461
hgdprs201102461
ensemblrs201102461
gopubmedrs201102461
geneviewrs201102461
scholarrs201102461
googlers201102461
pharmgkbrs201102461
gwascentralrs201102461
openSNPrs201102461
23andMers201102461
23andMe allrs201102461
SNP Nexus

SNPshotrs201102461
SNPdbers201102461
MSV3drs201102461
GWAS Ctlgrs201102461
Max Magnitude0
ClinVar
Risk rs201102461(A;A)
Alt rs201102461(A;A)
Reference rs201102461(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11215926G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000237176.1,