rs121965066

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	5	Factor XI deficiency
(A;C)	3	carrier of factor XI mutation
(C;C)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

4

Position

186274228

Gene

F11

is a	snp
is	mentioned by
dbSNP	rs121965066
dbSNP (classic)	rs121965066
ClinGen	rs121965066
ebi	rs121965066
HLI	rs121965066
Exac	rs121965066
Gnomad	rs121965066
Varsome	rs121965066
LitVar	rs121965066
Map	rs121965066
PheGenI	rs121965066
Biobank	rs121965066
1000 genomes	rs121965066
hgdp	rs121965066
ensembl	rs121965066
geneview	rs121965066
scholar	rs121965066
google	rs121965066
pharmgkb	rs121965066
gwascentral	rs121965066
openSNP	rs121965066
23andMe	rs121965066
SNPshot	rs121965066
SNPdbe	rs121965066
MSV3d	rs121965066
GWAS Ctlg	rs121965066

Max Magnitude

5

aka c.438C>A (p.Cys146Ter)

23andMe name: i5001639

OMIM	264900
Desc
Variant	0007
Related	also

ClinVar
Risk	Rs121965066(A;A)
Alt	Rs121965066(A;A)
Reference	Rs121965066(C;C)
Significance	Pathogenic
Disease	Hereditary factor XI deficiency disease
Variation	info
Gene	F11
CLNDBN	Hereditary factor XI deficiency disease
Reversed	0
HGVS	NC_000004.11:g.187195382C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012671.25,