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rs121908030

From SNPedia

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


Make rs121908030(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position11107484
GeneLDLR
is asnp
is mentioned by
dbSNPrs121908030
ebirs121908030
HLIrs121908030
Exacrs121908030
Varsomers121908030
Maprs121908030
PheGenIrs121908030
hapmaprs121908030
1000 genomesrs121908030
hgdprs121908030
ensemblrs121908030
gopubmedrs121908030
geneviewrs121908030
scholarrs121908030
googlers121908030
pharmgkbrs121908030
gwascentralrs121908030
openSNPrs121908030
23andMers121908030
23andMe allrs121908030
SNP Nexus

SNPshotrs121908030
SNPdbers121908030
MSV3drs121908030
GWAS Ctlgrs121908030
Max Magnitude4

aka c.910G>A, p.Asp304Asn or D304N; also known as FH Denver 2

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

OMIM606945
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908030(A;A)
Alt rs121908030(A;A)
Reference rs121908030(G;G)
Significance Other
Disease Familial hypercholesterolemia Hypercholesterolaemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia Hypercholesterolaemia
Reversed 0
HGVS NC_000019.9:g.11218160G>A; NC_000019.9:g.11218160G>T
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003880.4, RCV000148569.1, RCV000237933.1,