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rs757252110

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs757252110(A;A)
Make rs757252110(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11107489
GeneLDLR
is asnp
is mentioned by
dbSNPrs757252110
ebirs757252110
HLIrs757252110
Exacrs757252110
Varsomers757252110
Maprs757252110
PheGenIrs757252110
hapmaprs757252110
1000 genomesrs757252110
hgdprs757252110
ensemblrs757252110
gopubmedrs757252110
geneviewrs757252110
scholarrs757252110
googlers757252110
pharmgkbrs757252110
gwascentralrs757252110
openSNPrs757252110
23andMers757252110
23andMe allrs757252110
SNP Nexus

SNPshotrs757252110
SNPdbers757252110
MSV3drs757252110
GWAS Ctlgrs757252110
Max Magnitude0
ClinVar
Risk rs757252110(A;A)
Alt rs757252110(A;A)
Reference rs757252110(G;G)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11218165G>A; NC_000019.9:g.11218165G>C
CLNSRC LDLR @ LOVD
CLNACC RCV000238557.1, RCV000237618.1,