rs281875250

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

186288460

Gene	F11, F11-AS1

is a	snp
is	mentioned by
dbSNP	rs281875250
dbSNP (classic)	rs281875250
ClinGen	rs281875250
ebi	rs281875250
HLI	rs281875250
Exac	rs281875250
Gnomad	rs281875250
Varsome	rs281875250
LitVar	rs281875250
Map	rs281875250
PheGenI	rs281875250
Biobank	rs281875250
1000 genomes	rs281875250
hgdp	rs281875250
ensembl	rs281875250
geneview	rs281875250
scholar	rs281875250
google	rs281875250
pharmgkb	rs281875250
gwascentral	rs281875250
openSNP	rs281875250
23andMe	rs281875250
SNPshot	rs281875250
SNPdbe	rs281875250
MSV3d	rs281875250
GWAS Ctlg	rs281875250

Max Magnitude

5

ClinVar
Risk	Rs281875250(T;T)
Alt	Rs281875250(T;T)
Reference	Rs281875250(C;C)
Significance	Probable-Pathogenic
Disease	not provided Hereditary factor XI deficiency disease
Variation	info
Gene	F11-AS1 F11
CLNDBN	not provided Hereditary factor XI deficiency disease
Reversed	0
HGVS	NC_000004.11:g.187209614C>T
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059019.1, RCV000454166.1,