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rs563382937

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs563382937(A;G)
Make rs563382937(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120198
GeneLDLR
is asnp
is mentioned by
dbSNPrs563382937
ebirs563382937
HLIrs563382937
Exacrs563382937
Varsomers563382937
Maprs563382937
PheGenIrs563382937
hapmaprs563382937
1000 genomesrs563382937
hgdprs563382937
ensemblrs563382937
gopubmedrs563382937
geneviewrs563382937
scholarrs563382937
googlers563382937
pharmgkbrs563382937
gwascentralrs563382937
openSNPrs563382937
23andMers563382937
23andMe allrs563382937
SNP Nexus

SNPshotrs563382937
SNPdbers563382937
MSV3drs563382937
GWAS Ctlgrs563382937
Max Magnitude0
ClinVar
Risk rs563382937(G;G)
Alt rs563382937(G;G)
Reference rs563382937(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11230874A>T
CLNSRC LDLR @ LOVD
CLNACC RCV000238009.1,