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rs121908038

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
(T;T) 0 common in complete genomics


Make rs121908038(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position11113293
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs121908038
ebirs121908038
HLIrs121908038
Exacrs121908038
Varsomers121908038
Maprs121908038
PheGenIrs121908038
hapmaprs121908038
1000 genomesrs121908038
hgdprs121908038
ensemblrs121908038
gopubmedrs121908038
geneviewrs121908038
scholarrs121908038
googlers121908038
pharmgkbrs121908038
gwascentralrs121908038
openSNPrs121908038
23andMers121908038
23andMe allrs121908038
SNP Nexus

SNPshotrs121908038
SNPdbers121908038
MSV3drs121908038
GWAS Ctlgrs121908038
Max Magnitude4

aka c.1202T>A, p.Leu401His or L401H; also known as FH Pori

reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease

OMIM606945
Desc
Variant0053
Relatedalso
ClinVar
Risk rs121908038(A;A)
Alt rs121908038(A;A)
Reference rs121908038(T;T)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11223969T>A
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003933.5,