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rs387906303

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
(G;G) 0 common in clinvar


Make rs387906303(A;A)
ReferenceGRCh38 38.1/142
Chromosome19
Position11105576
GeneLDLR
is asnp
is mentioned by
dbSNPrs387906303
ebirs387906303
HLIrs387906303
Exacrs387906303
Varsomers387906303
Maprs387906303
PheGenIrs387906303
hapmaprs387906303
1000 genomesrs387906303
hgdprs387906303
ensemblrs387906303
gopubmedrs387906303
geneviewrs387906303
scholarrs387906303
googlers387906303
pharmgkbrs387906303
gwascentralrs387906303
openSNPrs387906303
23andMers387906303
23andMe allrs387906303
SNP Nexus

SNPshotrs387906303
SNPdbers387906303
MSV3drs387906303
GWAS Ctlgrs387906303
Max Magnitude4

aka c.670G>A, p.Asp224Asn or D224N; also known as FH Portugal

reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease

ClinVar
Risk rs387906303(A;A)
Alt rs387906303(A;A)
Reference rs387906303(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216252G>A
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003896.5,