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rs121908027

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 7 familial hypercholesterolemia
(-;GGT) 3.5 familial hypercholesterolemia
(GGT;GGT) 0 common in complete genomics
(TGG;TGG) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome19
Position11105558
GeneLDLR
is asnp
is mentioned by
dbSNPrs121908027
ebirs121908027
HLIrs121908027
Exacrs121908027
Varsomers121908027
Maprs121908027
PheGenIrs121908027
hapmaprs121908027
1000 genomesrs121908027
hgdprs121908027
ensemblrs121908027
gopubmedrs121908027
geneviewrs121908027
scholarrs121908027
googlers121908027
pharmgkbrs121908027
gwascentralrs121908027
openSNPrs121908027
23andMers121908027
23andMe allrs121908027
SNP Nexus

SNPshotrs121908027
SNPdbers121908027
MSV3drs121908027
GWAS Ctlgrs121908027
Max Magnitude7

rs121908027, also known as 652delGGT, G197del, among other terms, is a mutation in the LDLR gene on chromosome 19. This mutation is known as FH Lithuania, since it appears to be a founder mutation for familial hypercholesterolemia originating in the 14th century. It is reported to the be most common FH mutation in Ashkenazi Jews, found in up to 35% of FH families in Israel.[PMID 1867200OA-icon.png]

rs121908027 is named i4000356 in 23andMe data.

OMIM606945
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908027(;)
Alt rs121908027(;)
Reference rs121908027(TGG;TGG)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216236_11216238delTGG
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000211647.4,