rs145906668

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

186288514

Gene	F11, F11-AS1

is a	snp
is	mentioned by
dbSNP	rs145906668
dbSNP (classic)	rs145906668
ClinGen	rs145906668
ebi	rs145906668
HLI	rs145906668
Exac	rs145906668
Gnomad	rs145906668
Varsome	rs145906668
LitVar	rs145906668
Map	rs145906668
PheGenI	rs145906668
Biobank	rs145906668
1000 genomes	rs145906668
hgdp	rs145906668
ensembl	rs145906668
geneview	rs145906668
scholar	rs145906668
google	rs145906668
pharmgkb	rs145906668
gwascentral	rs145906668
openSNP	rs145906668
23andMe	rs145906668
SNPshot	rs145906668
SNPdbe	rs145906668
MSV3d	rs145906668
GWAS Ctlg	rs145906668

Max Magnitude

5

aka c.1778C>T (p.Thr593Met)

23andMe name: i6009850

ClinVar
Risk	Rs145906668(T;T)
Alt	Rs145906668(T;T)
Reference	Rs145906668(C;C)
Significance	Probable-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.187209668C>T
CLNSRC
CLNACC	RCV000411281.1,