rs375422404

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 38.3/149

Chromosome

4

Position

186286423

Gene	F11, F11-AS1

is a	snp
is	mentioned by
dbSNP	rs375422404
dbSNP (classic)	rs375422404
ClinGen	rs375422404
ebi	rs375422404
HLI	rs375422404
Exac	rs375422404
Gnomad	rs375422404
Varsome	rs375422404
LitVar	rs375422404
Map	rs375422404
PheGenI	rs375422404
Biobank	rs375422404
1000 genomes	rs375422404
hgdp	rs375422404
ensembl	rs375422404
geneview	rs375422404
scholar	rs375422404
google	rs375422404
pharmgkb	rs375422404
gwascentral	rs375422404
openSNP	rs375422404
23andMe	rs375422404
SNPshot	rs375422404
SNPdbe	rs375422404
MSV3d	rs375422404
GWAS Ctlg	rs375422404

Max Magnitude

5

aka c.1489C>T (p.Arg497Ter)

23andMe name: i6009851

ClinVar
Risk	Rs375422404(T;T)
Alt	Rs375422404(T;T)
Reference	Rs375422404(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	F11-AS1 F11
CLNDBN	not provided
Reversed	0
HGVS	NC_000004.11:g.187207577C>T
CLNSRC
CLNACC	RCV000349831.1,