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rs753707206

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs753707206(A;A)
Make rs753707206(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11116954
GeneLDLR
is asnp
is mentioned by
dbSNPrs753707206
ebirs753707206
HLIrs753707206
Exacrs753707206
Varsomers753707206
Maprs753707206
PheGenIrs753707206
hapmaprs753707206
1000 genomesrs753707206
hgdprs753707206
ensemblrs753707206
gopubmedrs753707206
geneviewrs753707206
scholarrs753707206
googlers753707206
pharmgkbrs753707206
gwascentralrs753707206
openSNPrs753707206
23andMers753707206
23andMe allrs753707206
SNP Nexus

SNPshotrs753707206
SNPdbers753707206
MSV3drs753707206
GWAS Ctlgrs753707206
Max Magnitude0
ClinVar
Risk rs753707206(A;A)
Alt rs753707206(A;A)
Reference rs753707206(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11227630G>C; NC_000019.9:g.11227630G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237978.1, RCV000238532.1,