Have questions? Visit https://www.reddit.com/r/SNPedia

rs746834464

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 5 Familial Hypercholesterolemia
(G;T) 5 Familial Hypercholesterolemia


Make rs746834464(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11110660
GeneLDLR
is asnp
is mentioned by
dbSNPrs746834464
dbSNP (classic)rs746834464
ClinGenrs746834464
ebirs746834464
HLIrs746834464
Exacrs746834464
Gnomadrs746834464
Varsomers746834464
LitVarrs746834464
Maprs746834464
PheGenIrs746834464
Biobankrs746834464
1000 genomesrs746834464
hgdprs746834464
ensemblrs746834464
geneviewrs746834464
scholarrs746834464
googlers746834464
pharmgkbrs746834464
gwascentralrs746834464
openSNPrs746834464
23andMers746834464
SNPshotrs746834464
SNPdbers746834464
MSV3drs746834464
GWAS Ctlgrs746834464
Max Magnitude5
ClinVar
Risk rs746834464(A;A) rs746834464(T;T)
Alt rs746834464(A;A) rs746834464(T;T)
Reference Rs746834464(G;G)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11221336G>A; NC_000019.9:g.11221336G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237913.1, RCV000238478.1,