rs139695003

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.p2 38.2/144

Chromosome

4

Position

186287720

Gene	F11, F11-AS1

is a	snp
is	mentioned by
dbSNP	rs139695003
dbSNP (classic)	rs139695003
ClinGen	rs139695003
ebi	rs139695003
HLI	rs139695003
Exac	rs139695003
Gnomad	rs139695003
Varsome	rs139695003
LitVar	rs139695003
Map	rs139695003
PheGenI	rs139695003
Biobank	rs139695003
1000 genomes	rs139695003
hgdp	rs139695003
ensembl	rs139695003
geneview	rs139695003
scholar	rs139695003
google	rs139695003
pharmgkb	rs139695003
gwascentral	rs139695003
openSNP	rs139695003
23andMe	rs139695003
SNPshot	rs139695003
SNPdbe	rs139695003
MSV3d	rs139695003
GWAS Ctlg	rs139695003

Max Magnitude

5

ClinVar
Risk	rs139695003(A;A) Rs139695003(T;T)
Alt	rs139695003(A;A) Rs139695003(T;T)
Reference	Rs139695003(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.187208874C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169580.1,