rs121908027

plus

Geno	Mag	Summary
(-;-)	7	familial hypercholesterolemia
(-;GGT)	3.5	familial hypercholesterolemia
(-;TGG)	5	Familial Hypercholesterolemia
(GGT;GGT)	0	common in complete genomics
(TGG;TGG)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

19

Position

11105558

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs121908027
dbSNP (classic)	rs121908027
ClinGen	rs121908027
ebi	rs121908027
HLI	rs121908027
Exac	rs121908027
Gnomad	rs121908027
Varsome	rs121908027
LitVar	rs121908027
Map	rs121908027
PheGenI	rs121908027
Biobank	rs121908027
1000 genomes	rs121908027
hgdp	rs121908027
ensembl	rs121908027
geneview	rs121908027
scholar	rs121908027
google	rs121908027
pharmgkb	rs121908027
gwascentral	rs121908027
openSNP	rs121908027
23andMe	rs121908027
SNPshot	rs121908027
SNPdbe	rs121908027
MSV3d	rs121908027
GWAS Ctlg	rs121908027

Max Magnitude

7

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 1867200 ]

rs121908027 is named i4000356 in 23andMe data.

OMIM	606945
Desc
Variant	0005
Related	also

ClinVar
Risk	Rs121908027(-;-) Rs121908027(TGG;TGG)
Alt	Rs121908027(-;-) Rs121908027(TGG;TGG)
Reference	Rs121908027(GGT;GGT)
Significance	Other
Disease	Familial hypercholesterolemia not provided
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia not provided
Reversed	0
HGVS	NC_000019.9:g.11216236_11216238delTGG
CLNSRC	LDLR @ LOVD OMIM Allelic Variant
CLNACC	RCV000211647.5, RCV000489033.1,