rs1057517364

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

186274115

Gene

F11

is a	snp
is	mentioned by
dbSNP	rs1057517364
dbSNP (classic)	rs1057517364
ClinGen	rs1057517364
ebi	rs1057517364
HLI	rs1057517364
Exac	rs1057517364
Gnomad	rs1057517364
Varsome	rs1057517364
LitVar	rs1057517364
Map	rs1057517364
PheGenI	rs1057517364
Biobank	rs1057517364
1000 genomes	rs1057517364
hgdp	rs1057517364
ensembl	rs1057517364
geneview	rs1057517364
scholar	rs1057517364
google	rs1057517364
pharmgkb	rs1057517364
gwascentral	rs1057517364
openSNP	rs1057517364
23andMe	rs1057517364
SNPshot	rs1057517364
SNPdbe	rs1057517364
MSV3d	rs1057517364
GWAS Ctlg	rs1057517364

Max Magnitude

5

ClinVar
Risk	Rs1057517364(A;A)
Alt	Rs1057517364(A;A)
Reference	Rs1057517364(G;G)
Significance	Pathogenic
Disease	Hereditary factor XI deficiency disease
Variation	info
Gene	F11
CLNDBN	Hereditary factor XI deficiency disease
Reversed	0
HGVS	NC_000004.11:g.187195269G>A
CLNSRC
CLNACC	RCV000409991.1,