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rs145787161

From SNPedia

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


Make rs145787161(A;A)
ReferenceGRCh38 38.1/142
Chromosome19
Position11120523
GeneLDLR
is asnp
is mentioned by
dbSNPrs145787161
ebirs145787161
HLIrs145787161
Exacrs145787161
Varsomers145787161
Maprs145787161
PheGenIrs145787161
hapmaprs145787161
1000 genomesrs145787161
hgdprs145787161
ensemblrs145787161
gopubmedrs145787161
geneviewrs145787161
scholarrs145787161
googlers145787161
pharmgkbrs145787161
gwascentralrs145787161
openSNPrs145787161
23andMers145787161
23andMe allrs145787161
SNP Nexus

SNPshotrs145787161
SNPdbers145787161
MSV3drs145787161
GWAS Ctlgrs145787161
Max Magnitude4

aka c.2140+1G>A

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

ClinVar
Risk rs145787161(A,C,T;A,C,T)
Alt rs145787161(A,C,T;A,C,T)
Reference rs145787161(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231199G>A; NC_000019.9:g.11231199G>C; NC_000019.9:g.11231199G>T
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003942.4, RCV000238288.1, RCV000237339.1,