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rs193922568

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922568(A;A)
Make rs193922568(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position11113557
GeneLDLR
is asnp
is mentioned by
dbSNPrs193922568
ebirs193922568
HLIrs193922568
Exacrs193922568
Varsomers193922568
Maprs193922568
PheGenIrs193922568
hapmaprs193922568
1000 genomesrs193922568
hgdprs193922568
ensemblrs193922568
gopubmedrs193922568
geneviewrs193922568
scholarrs193922568
googlers193922568
pharmgkbrs193922568
gwascentralrs193922568
openSNPrs193922568
23andMers193922568
23andMe allrs193922568
SNP Nexus

SNPshotrs193922568
SNPdbers193922568
MSV3drs193922568
GWAS Ctlgrs193922568
Max Magnitude0
ClinVar
Risk rs193922568(A,T;A,T)
Alt rs193922568(A,T;A,T)
Reference rs193922568(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia not provided
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia not provided
Reversed 0
HGVS NC_000019.9:g.11224233G>A; NC_000019.9:g.11224233G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000030128.1, RCV000161985.1, RCV000237193.1,