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rs193922567

From SNPedia

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


Make rs193922567(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position11113451
GeneLDLR
is asnp
is mentioned by
dbSNPrs193922567
ebirs193922567
HLIrs193922567
Exacrs193922567
Varsomers193922567
Maprs193922567
PheGenIrs193922567
hapmaprs193922567
1000 genomesrs193922567
hgdprs193922567
ensemblrs193922567
gopubmedrs193922567
geneviewrs193922567
scholarrs193922567
googlers193922567
pharmgkbrs193922567
gwascentralrs193922567
openSNPrs193922567
23andMers193922567
23andMe allrs193922567
SNP Nexus

SNPshotrs193922567
SNPdbers193922567
MSV3drs193922567
GWAS Ctlgrs193922567
Max Magnitude4

aka c.1358+2T>A

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

ClinVar
Risk rs193922567(A;A)
Alt rs193922567(A;A)
Reference rs193922567(T;T)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224127T>A
CLNSRC LDLR @ LOVD
CLNACC RCV000030127.4,


[PMID 11196104] Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.


[PMID 11462246] Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.