rs121965067

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

186284167

Gene

F11

is a	snp
is	mentioned by
dbSNP	rs121965067
dbSNP (classic)	rs121965067
ClinGen	rs121965067
ebi	rs121965067
HLI	rs121965067
Exac	rs121965067
Gnomad	rs121965067
Varsome	rs121965067
LitVar	rs121965067
Map	rs121965067
PheGenI	rs121965067
Biobank	rs121965067
1000 genomes	rs121965067
hgdp	rs121965067
ensembl	rs121965067
geneview	rs121965067
scholar	rs121965067
google	rs121965067
pharmgkb	rs121965067
gwascentral	rs121965067
openSNP	rs121965067
23andMe	rs121965067
SNPshot	rs121965067
SNPdbe	rs121965067
MSV3d	rs121965067
GWAS Ctlg	rs121965067

Max Magnitude

5

OMIM	264900
Desc
Variant	0008
Related	also

ClinVar
Risk	Rs121965067(A;A)
Alt	Rs121965067(A;A)
Reference	Rs121965067(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.187205321C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012672.24,