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rs730882110

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882110(A;A)
Make rs730882110(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120197
GeneLDLR
is asnp
is mentioned by
dbSNPrs730882110
ebirs730882110
HLIrs730882110
Exacrs730882110
Varsomers730882110
Maprs730882110
PheGenIrs730882110
hapmaprs730882110
1000 genomesrs730882110
hgdprs730882110
ensemblrs730882110
gopubmedrs730882110
geneviewrs730882110
scholarrs730882110
googlers730882110
pharmgkbrs730882110
gwascentralrs730882110
openSNPrs730882110
23andMers730882110
23andMe allrs730882110
SNP Nexus

SNPshotrs730882110
SNPdbers730882110
MSV3drs730882110
GWAS Ctlgrs730882110
Max Magnitude0
ClinVar
Risk rs730882110(A;A)
Alt rs730882110(A;A)
Reference rs730882110(G;G)
Significance Probable-Pathogenic
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11230873G>A; NC_000019.9:g.11230873G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000162005.1, RCV000238255.1, RCV000237448.1,