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rs761765254

From SNPedia

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Geno Mag Summary
(A;A) 0 common in clinvar
Make rs761765254(A;C)
Make rs761765254(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11107506
GeneLDLR
is asnp
is mentioned by
dbSNPrs761765254
ebirs761765254
HLIrs761765254
Exacrs761765254
Varsomers761765254
Maprs761765254
PheGenIrs761765254
hapmaprs761765254
1000 genomesrs761765254
hgdprs761765254
ensemblrs761765254
gopubmedrs761765254
geneviewrs761765254
scholarrs761765254
googlers761765254
pharmgkbrs761765254
gwascentralrs761765254
openSNPrs761765254
23andMers761765254
23andMe allrs761765254
SNP Nexus

SNPshotrs761765254
SNPdbers761765254
MSV3drs761765254
GWAS Ctlgrs761765254
Max Magnitude0
ClinVar
Risk rs761765254(C;C)
Alt rs761765254(C;C)
Reference rs761765254(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11218182A>C; NC_000019.9:g.11218182A>G
CLNSRC LDLR @ LOVD
CLNACC RCV000237873.1, RCV000238436.1,