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rs776421777

From SNPedia

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


Make rs776421777(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11100246
GeneLDLR
is asnp
is mentioned by
dbSNPrs776421777
dbSNP (classic)rs776421777
ClinGenrs776421777
ebirs776421777
HLIrs776421777
Exacrs776421777
Gnomadrs776421777
Varsomers776421777
LitVarrs776421777
Maprs776421777
PheGenIrs776421777
Biobankrs776421777
1000 genomesrs776421777
hgdprs776421777
ensemblrs776421777
geneviewrs776421777
scholarrs776421777
googlers776421777
pharmgkbrs776421777
gwascentralrs776421777
openSNPrs776421777
23andMers776421777
SNPshotrs776421777
SNPdbers776421777
MSV3drs776421777
GWAS Ctlgrs776421777
Max Magnitude5
ClinVar
Risk rs776421777(A;A) rs776421777(T;T)
Alt rs776421777(A;A) rs776421777(T;T)
Reference Rs776421777(G;G)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11210922G>A; NC_000019.9:g.11210922G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237765.1, RCV000238408.1,