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rs544453230

From SNPedia

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


Make rs544453230(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11110714
GeneLDLR
is asnp
is mentioned by
dbSNPrs544453230
ebirs544453230
HLIrs544453230
Exacrs544453230
Varsomers544453230
Maprs544453230
PheGenIrs544453230
hapmaprs544453230
1000 genomesrs544453230
hgdprs544453230
ensemblrs544453230
gopubmedrs544453230
geneviewrs544453230
scholarrs544453230
googlers544453230
pharmgkbrs544453230
gwascentralrs544453230
openSNPrs544453230
23andMers544453230
23andMe allrs544453230
SNP Nexus

SNPshotrs544453230
SNPdbers544453230
MSV3drs544453230
GWAS Ctlgrs544453230
Max Magnitude4
aka c.1003G>A, p.Gly335Ser or G335S

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

ClinVar
Risk rs544453230(A,C;A,C)
Alt rs544453230(A,C;A,C)
Reference rs544453230(G;G)
Significance Pathogenic
Disease not provided not specified Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN not provided not specified Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11221390G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000161976.2, RCV000215066.1, RCV000238015.1,