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rs200727689

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 5 Familial Hypercholesterolemia
(C;G) 5 Familial Hypercholesterolemia
(G;G) 0 common/normal
(G;T) 5 Familial Hypercholesterolemia


Make rs200727689(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11105408
GeneLDLR
is asnp
is mentioned by
dbSNPrs200727689
dbSNP (classic)rs200727689
ClinGenrs200727689
ebirs200727689
HLIrs200727689
Exacrs200727689
Gnomadrs200727689
Varsomers200727689
LitVarrs200727689
Maprs200727689
PheGenIrs200727689
Biobankrs200727689
1000 genomesrs200727689
hgdprs200727689
ensemblrs200727689
geneviewrs200727689
scholarrs200727689
googlers200727689
pharmgkbrs200727689
gwascentralrs200727689
openSNPrs200727689
23andMers200727689
SNPshotrs200727689
SNPdbers200727689
MSV3drs200727689
GWAS Ctlgrs200727689
Max Magnitude5
ClinVar
Risk rs200727689(A;A) rs200727689(C;C) rs200727689(T;T)
Alt rs200727689(A;A) rs200727689(C;C) rs200727689(T;T)
Reference Rs200727689(G;G)
Significance Other
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216084G>A; NC_000019.9:g.11216084G>C; NC_000019.9:g.11216084G>T
CLNSRC LDLR @ LOVD UniProtKB (protein)
CLNACC RCV000162017.1, RCV000211669.3, RCV000238302.1, RCV000237377.1,