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rs756039188

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 5 Familial Hypercholesterolemia
(G;G) 0 common in clinvar


Make rs756039188(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11089560
GeneLDLR
is asnp
is mentioned by
dbSNPrs756039188
dbSNP (classic)rs756039188
ClinGenrs756039188
ebirs756039188
HLIrs756039188
Exacrs756039188
Gnomadrs756039188
Varsomers756039188
LitVarrs756039188
Maprs756039188
PheGenIrs756039188
Biobankrs756039188
1000 genomesrs756039188
hgdprs756039188
ensemblrs756039188
geneviewrs756039188
scholarrs756039188
googlers756039188
pharmgkbrs756039188
gwascentralrs756039188
openSNPrs756039188
23andMers756039188
SNPshotrs756039188
SNPdbers756039188
MSV3drs756039188
GWAS Ctlgrs756039188
Max Magnitude5
ClinVar
Risk rs756039188(A;A)
Alt rs756039188(A;A)
Reference Rs756039188(G;G)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11200236G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000227275.2,