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rs754676104

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 5 Familial Hypercholesterolemia
(C;C) 0 common in clinvar
Make rs754676104(C;T)
Make rs754676104(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11100293
GeneLDLR
is asnp
is mentioned by
dbSNPrs754676104
dbSNP (classic)rs754676104
ClinGenrs754676104
ebirs754676104
HLIrs754676104
Exacrs754676104
Gnomadrs754676104
Varsomers754676104
LitVarrs754676104
Maprs754676104
PheGenIrs754676104
Biobankrs754676104
1000 genomesrs754676104
hgdprs754676104
ensemblrs754676104
geneviewrs754676104
scholarrs754676104
googlers754676104
pharmgkbrs754676104
gwascentralrs754676104
openSNPrs754676104
23andMers754676104
SNPshotrs754676104
SNPdbers754676104
MSV3drs754676104
GWAS Ctlgrs754676104
Max Magnitude5
ClinVar
Risk rs754676104(A;A) rs754676104(T;T)
Alt rs754676104(A;A) rs754676104(T;T)
Reference Rs754676104(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11210969C>A
CLNSRC LDLR @ LOVD
CLNACC RCV000237307.1,