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rs28942085

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs28942085(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position11129606
GeneLDLR
is asnp
is mentioned by
dbSNPrs28942085
ebirs28942085
HLIrs28942085
Exacrs28942085
Varsomers28942085
Maprs28942085
PheGenIrs28942085
hapmaprs28942085
1000 genomesrs28942085
hgdprs28942085
ensemblrs28942085
gopubmedrs28942085
geneviewrs28942085
scholarrs28942085
googlers28942085
pharmgkbrs28942085
gwascentralrs28942085
openSNPrs28942085
23andMers28942085
23andMe allrs28942085
SNP Nexus

SNPshotrs28942085
SNPdbers28942085
MSV3drs28942085
GWAS Ctlgrs28942085
Max Magnitude4

aka c.2483A>G, p.Tyr828Cys or Y828C; also known as FH Bari or FH Syria

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

OMIM606945
DescFH BARI
Variant0019
Relatedalso
ClinVar
Risk rs28942085(G;G)
Alt rs28942085(G;G)
Reference rs28942085(A;A)
Significance Other
Disease Familial hypercholesterolemia not provided
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia not provided
Reversed 0
HGVS NC_000019.9:g.11240282A>C; NC_000019.9:g.11240282A>G
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000211561.2, RCV000003893.6, RCV000162025.1,