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rs730880130

From SNPedia

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


Make rs730880130(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position11113644
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs730880130
ebirs730880130
HLIrs730880130
Exacrs730880130
Varsomers730880130
Maprs730880130
PheGenIrs730880130
hapmaprs730880130
1000 genomesrs730880130
hgdprs730880130
ensemblrs730880130
gopubmedrs730880130
geneviewrs730880130
scholarrs730880130
googlers730880130
pharmgkbrs730880130
gwascentralrs730880130
openSNPrs730880130
23andMers730880130
23andMe allrs730880130
SNP Nexus

SNPshotrs730880130
SNPdbers730880130
MSV3drs730880130
GWAS Ctlgrs730880130
Max Magnitude4

aka c.1468T>C, p.Trp490Arg or W490R

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

ClinVar
Risk rs730880130(C;C)
Alt rs730880130(C;C)
Reference rs730880130(T;T)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224320T>C; NC_000019.9:g.11224320T>G
CLNSRC LDLR @ LOVD
CLNACC RCV000157290.2, RCV000237767.1,