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rs193922571

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922571(A;A)
Make rs193922571(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position11105268
GeneLDLR
is asnp
is mentioned by
dbSNPrs193922571
ClinGenrs193922571
ebirs193922571
HLIrs193922571
Exacrs193922571
Varsomers193922571
Maprs193922571
PheGenIrs193922571
hapmaprs193922571
1000 genomesrs193922571
hgdprs193922571
ensemblrs193922571
gopubmedrs193922571
geneviewrs193922571
scholarrs193922571
googlers193922571
pharmgkbrs193922571
gwascentralrs193922571
openSNPrs193922571
23andMers193922571
23andMe allrs193922571
SNP Nexus

SNPshotrs193922571
SNPdbers193922571
MSV3drs193922571
GWAS Ctlgrs193922571
Max Magnitude0
ClinVar
Risk rs193922571(A;A) rs193922571(C;C) rs193922571(T;T)
Alt rs193922571(A;A) rs193922571(C;C) rs193922571(T;T)
Reference Rs193922571(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11215944G>A; NC_000019.9:g.11215944G>C; NC_000019.9:g.11215944G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000030136.2, RCV000238114.1, RCV000238518.1,


[PMID 16465405] Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent.


[PMID 18096825] Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect.