rs1057516738

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

186271772

Gene

F11

is a	snp
is	mentioned by
dbSNP	rs1057516738
dbSNP (classic)	rs1057516738
ClinGen	rs1057516738
ebi	rs1057516738
HLI	rs1057516738
Exac	rs1057516738
Gnomad	rs1057516738
Varsome	rs1057516738
LitVar	rs1057516738
Map	rs1057516738
PheGenI	rs1057516738
Biobank	rs1057516738
1000 genomes	rs1057516738
hgdp	rs1057516738
ensembl	rs1057516738
geneview	rs1057516738
scholar	rs1057516738
google	rs1057516738
pharmgkb	rs1057516738
gwascentral	rs1057516738
openSNP	rs1057516738
23andMe	rs1057516738
SNPshot	rs1057516738
SNPdbe	rs1057516738
MSV3d	rs1057516738
GWAS Ctlg	rs1057516738

Max Magnitude

5

ClinVar
Risk	Rs1057516738(A;A)
Alt	Rs1057516738(A;A)
Reference	Rs1057516738(G;G)
Significance	Probable-Pathogenic
Disease	Hereditary factor XI deficiency disease
Variation	info
Gene	F11
CLNDBN	Hereditary factor XI deficiency disease
Reversed	0
HGVS	NC_000004.11:g.187192926G>A
CLNSRC
CLNACC	RCV000409767.1,