rs121965068

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(T;T)	5	Factor XI deficiency

Reference

GRCh38 38.1/141

Chromosome

4

Position

186284245

Gene

F11

is a	snp
is	mentioned by
dbSNP	rs121965068
dbSNP (classic)	rs121965068
ClinGen	rs121965068
ebi	rs121965068
HLI	rs121965068
Exac	rs121965068
Gnomad	rs121965068
Varsome	rs121965068
LitVar	rs121965068
Map	rs121965068
PheGenI	rs121965068
Biobank	rs121965068
1000 genomes	rs121965068
hgdp	rs121965068
ensembl	rs121965068
geneview	rs121965068
scholar	rs121965068
google	rs121965068
pharmgkb	rs121965068
gwascentral	rs121965068
openSNP	rs121965068
23andMe	rs121965068
SNPshot	rs121965068
SNPdbe	rs121965068
MSV3d	rs121965068
GWAS Ctlg	rs121965068

Merged from

Rs28934901

Max Magnitude

5

OMIM	264900
Desc
Variant	0010
Related	also

ClinVar
Risk	Rs121965068(T;T)
Alt	Rs121965068(T;T)
Reference	Rs121965068(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.187205399C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012674.24,