rs121965069

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

4

Position

186271719

Gene

F11

is a	snp
is	mentioned by
dbSNP	rs121965069
dbSNP (classic)	rs121965069
ClinGen	rs121965069
ebi	rs121965069
HLI	rs121965069
Exac	rs121965069
Gnomad	rs121965069
Varsome	rs121965069
LitVar	rs121965069
Map	rs121965069
PheGenI	rs121965069
Biobank	rs121965069
1000 genomes	rs121965069
hgdp	rs121965069
ensembl	rs121965069
geneview	rs121965069
scholar	rs121965069
google	rs121965069
pharmgkb	rs121965069
gwascentral	rs121965069
openSNP	rs121965069
23andMe	rs121965069
SNPshot	rs121965069
SNPdbe	rs121965069
MSV3d	rs121965069
GWAS Ctlg	rs121965069

Max Magnitude

5

OMIM	264900
Desc
Variant	0012
Related	also

ClinVar
Risk	Rs121965069(C;C)
Alt	Rs121965069(C;C)
Reference	Rs121965069(T;T)
Significance	Other
Disease	Hereditary factor XI deficiency disease
Variation	info
Gene	F11
CLNDBN	Hereditary factor XI deficiency disease
Reversed	0
HGVS	NC_000004.11:g.187192873T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012676.14,