rs121965065

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

4

Position

186285711

Gene	F11, F11-AS1

is a	snp
is	mentioned by
dbSNP	rs121965065
dbSNP (classic)	rs121965065
ClinGen	rs121965065
ebi	rs121965065
HLI	rs121965065
Exac	rs121965065
Gnomad	rs121965065
Varsome	rs121965065
LitVar	rs121965065
Map	rs121965065
PheGenI	rs121965065
Biobank	rs121965065
1000 genomes	rs121965065
hgdp	rs121965065
ensembl	rs121965065
geneview	rs121965065
scholar	rs121965065
google	rs121965065
pharmgkb	rs121965065
gwascentral	rs121965065
openSNP	rs121965065
23andMe	rs121965065
SNPshot	rs121965065
SNPdbe	rs121965065
MSV3d	rs121965065
GWAS Ctlg	rs121965065

Max Magnitude

5

aka c.1378T>G (p.Phe460Val)

23andMe name: i5001640

OMIM	264900
Desc
Variant	0006
Related	also

ClinVar
Risk	Rs121965065(G;G)
Alt	Rs121965065(G;G)
Reference	Rs121965065(T;T)
Significance	Pathogenic
Disease	Hereditary factor XI deficiency disease
Variation	info
Gene	F11-AS1 F11
CLNDBN	Hereditary factor XI deficiency disease
Reversed	0
HGVS	NC_000004.11:g.187206865T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012670.21,