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rs776217028

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs776217028(C;C)
Make rs776217028(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120471
GeneLDLR
is asnp
is mentioned by
dbSNPrs776217028
ebirs776217028
HLIrs776217028
Exacrs776217028
Varsomers776217028
Maprs776217028
PheGenIrs776217028
hapmaprs776217028
1000 genomesrs776217028
hgdprs776217028
ensemblrs776217028
gopubmedrs776217028
geneviewrs776217028
scholarrs776217028
googlers776217028
pharmgkbrs776217028
gwascentralrs776217028
openSNPrs776217028
23andMers776217028
23andMe allrs776217028
SNP Nexus

SNPshotrs776217028
SNPdbers776217028
MSV3drs776217028
GWAS Ctlgrs776217028
Max Magnitude0
ClinVar
Risk rs776217028(A,C;A,C)
Alt rs776217028(A,C;A,C)
Reference rs776217028(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231147G>C
CLNSRC LDLR @ LOVD
CLNACC RCV000237838.1,