rs28934609

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

186288518

Gene	F11, F11-AS1

is a	snp
is	mentioned by
dbSNP	rs28934609
dbSNP (classic)	rs28934609
ClinGen	rs28934609
ebi	rs28934609
HLI	rs28934609
Exac	rs28934609
Gnomad	rs28934609
Varsome	rs28934609
LitVar	rs28934609
Map	rs28934609
PheGenI	rs28934609
Biobank	rs28934609
1000 genomes	rs28934609
hgdp	rs28934609
ensembl	rs28934609
geneview	rs28934609
scholar	rs28934609
google	rs28934609
pharmgkb	rs28934609
gwascentral	rs28934609
openSNP	rs28934609
23andMe	rs28934609
SNPshot	rs28934609
SNPdbe	rs28934609
MSV3d	rs28934609
GWAS Ctlg	rs28934609

Max Magnitude

5

aka c.1782C>A (p.Ser594Arg)

23andMe name: i6009859

OMIM	264900
Desc	FACTOR XI DEFICIENCY
Variant	0011
Related	also

ClinVar
Risk	Rs28934609(A;A)
Alt	Rs28934609(A;A)
Reference	Rs28934609(C;C)
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.187209672C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012675.18,