Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs879254452

From SNPedia

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


Make rs879254452(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11102733
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254452
dbSNP (old)rs879254452
ClinGenrs879254452
ebirs879254452
HLIrs879254452
Exacrs879254452
Gnomadrs879254452
Varsomers879254452
Maprs879254452
PheGenIrs879254452
Biobankrs879254452
1000 genomesrs879254452
hgdprs879254452
ensemblrs879254452
gopubmedrs879254452
geneviewrs879254452
scholarrs879254452
googlers879254452
pharmgkbrs879254452
gwascentralrs879254452
openSNPrs879254452
23andMers879254452
23andMe allrs879254452
SNPshotrs879254452
SNPdbers879254452
MSV3drs879254452
GWAS Ctlgrs879254452
Max Magnitude5
ClinVar
Risk rs879254452(A;A)
Alt rs879254452(A;A)
Reference Rs879254452(G;G)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11213409G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000237181.1,