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rs875989927

From SNPedia

Orientationplus
Geno Mag Summary
(GTGGC;GTGGC) 0 common in clinvar
Make rs875989927(A;A)
Make rs875989927(A;GTGGC)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11116868
GeneLDLR
is asnp
is mentioned by
dbSNPrs875989927
ebirs875989927
HLIrs875989927
Exacrs875989927
Varsomers875989927
Maprs875989927
PheGenIrs875989927
hapmaprs875989927
1000 genomesrs875989927
hgdprs875989927
ensemblrs875989927
gopubmedrs875989927
geneviewrs875989927
scholarrs875989927
googlers875989927
pharmgkbrs875989927
gwascentralrs875989927
openSNPrs875989927
23andMers875989927
23andMe allrs875989927
SNP Nexus

SNPshotrs875989927
SNPdbers875989927
MSV3drs875989927
GWAS Ctlgrs875989927
Max Magnitude0
ClinVar
Risk rs875989927(A;A)
Alt rs875989927(A;A)
Reference rs875989927(GTGGC;GTGGC)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11227544_11227548delGTGGCinsA
CLNSRC LDLR @ LOVD
CLNACC RCV000211678.2,