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rs752935814

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs752935814(A;A)
Make rs752935814(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120380
GeneLDLR
is asnp
is mentioned by
dbSNPrs752935814
ebirs752935814
HLIrs752935814
Exacrs752935814
Varsomers752935814
Maprs752935814
PheGenIrs752935814
hapmaprs752935814
1000 genomesrs752935814
hgdprs752935814
ensemblrs752935814
gopubmedrs752935814
geneviewrs752935814
scholarrs752935814
googlers752935814
pharmgkbrs752935814
gwascentralrs752935814
openSNPrs752935814
23andMers752935814
23andMe allrs752935814
SNP Nexus

SNPshotrs752935814
SNPdbers752935814
MSV3drs752935814
GWAS Ctlgrs752935814
Max Magnitude0
ClinVar
Risk rs752935814(A,C;A,C)
Alt rs752935814(A,C;A,C)
Reference rs752935814(G;G)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231056G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000237406.1,