rs1057516695

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

186275785

Gene

F11

is a	snp
is	mentioned by
dbSNP	rs1057516695
dbSNP (classic)	rs1057516695
ClinGen	rs1057516695
ebi	rs1057516695
HLI	rs1057516695
Exac	rs1057516695
Gnomad	rs1057516695
Varsome	rs1057516695
LitVar	rs1057516695
Map	rs1057516695
PheGenI	rs1057516695
Biobank	rs1057516695
1000 genomes	rs1057516695
hgdp	rs1057516695
ensembl	rs1057516695
geneview	rs1057516695
scholar	rs1057516695
google	rs1057516695
pharmgkb	rs1057516695
gwascentral	rs1057516695
openSNP	rs1057516695
23andMe	rs1057516695
SNPshot	rs1057516695
SNPdbe	rs1057516695
MSV3d	rs1057516695
GWAS Ctlg	rs1057516695

Max Magnitude

5

ClinVar
Risk	Rs1057516695(G;G)
Alt	Rs1057516695(G;G)
Reference	Rs1057516695(A;A)
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.187196939A>G
CLNSRC
CLNACC	RCV000409802.1,