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rs749780672

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs749780672(A;A)
Make rs749780672(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11113426
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs749780672
ebirs749780672
HLIrs749780672
Exacrs749780672
Varsomers749780672
Maprs749780672
PheGenIrs749780672
hapmaprs749780672
1000 genomesrs749780672
hgdprs749780672
ensemblrs749780672
gopubmedrs749780672
geneviewrs749780672
scholarrs749780672
googlers749780672
pharmgkbrs749780672
gwascentralrs749780672
openSNPrs749780672
23andMers749780672
23andMe allrs749780672
SNP Nexus

SNPshotrs749780672
SNPdbers749780672
MSV3drs749780672
GWAS Ctlgrs749780672
Max Magnitude0
ClinVar
Risk rs749780672(A;A)
Alt rs749780672(A;A)
Reference rs749780672(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224102C>A
CLNSRC LDLR @ LOVD
CLNACC RCV000237931.1,