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

rs869320650

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 5 Familial Hypercholesterolemia
(G;G) 0 common in clinvar
(G;T) 5 Familial Hypercholesterolemia


Make rs869320650(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11110715
GeneLDLR
is asnp
is mentioned by
dbSNPrs869320650
dbSNP (classic)rs869320650
ClinGenrs869320650
ebirs869320650
HLIrs869320650
Exacrs869320650
Gnomadrs869320650
Varsomers869320650
LitVarrs869320650
Maprs869320650
PheGenIrs869320650
Biobankrs869320650
1000 genomesrs869320650
hgdprs869320650
ensemblrs869320650
geneviewrs869320650
scholarrs869320650
googlers869320650
pharmgkbrs869320650
gwascentralrs869320650
openSNPrs869320650
23andMers869320650
23andMe allrs869320650
SNPshotrs869320650
SNPdbers869320650
MSV3drs869320650
GWAS Ctlgrs869320650
Max Magnitude5
ClinVar
Risk rs869320650(A;A) rs869320650(T;T)
Alt rs869320650(A;A) rs869320650(T;T)
Reference Rs869320650(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11221391G>A; NC_000019.9:g.11221391G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000210827.1, RCV000238578.1,