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rs768563000

From SNPedia

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


Make rs768563000(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11106588
GeneLDLR
is asnp
is mentioned by
dbSNPrs768563000
ebirs768563000
HLIrs768563000
Exacrs768563000
Varsomers768563000
Maprs768563000
PheGenIrs768563000
hapmaprs768563000
1000 genomesrs768563000
hgdprs768563000
ensemblrs768563000
gopubmedrs768563000
geneviewrs768563000
scholarrs768563000
googlers768563000
pharmgkbrs768563000
gwascentralrs768563000
openSNPrs768563000
23andMers768563000
23andMe allrs768563000
SNP Nexus

SNPshotrs768563000
SNPdbers768563000
MSV3drs768563000
GWAS Ctlgrs768563000
Max Magnitude4
aka c.718G>A, p.Glu240Lys or E240K

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

ClinVar
Risk rs768563000(A,T;A,T)
Alt rs768563000(A,T;A,T)
Reference rs768563000(G;G)
Significance Other
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11217264G>A; NC_000019.9:g.11217264G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000182341.2, RCV000211564.2, RCV000238256.1,