rs1057516506

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

186286414

Gene	F11, F11-AS1

is a	snp
is	mentioned by
dbSNP	rs1057516506
dbSNP (classic)	rs1057516506
ClinGen	rs1057516506
ebi	rs1057516506
HLI	rs1057516506
Exac	rs1057516506
Gnomad	rs1057516506
Varsome	rs1057516506
LitVar	rs1057516506
Map	rs1057516506
PheGenI	rs1057516506
Biobank	rs1057516506
1000 genomes	rs1057516506
hgdp	rs1057516506
ensembl	rs1057516506
geneview	rs1057516506
scholar	rs1057516506
google	rs1057516506
pharmgkb	rs1057516506
gwascentral	rs1057516506
openSNP	rs1057516506
23andMe	rs1057516506
SNPshot	rs1057516506
SNPdbe	rs1057516506
MSV3d	rs1057516506
GWAS Ctlg	rs1057516506

Max Magnitude

5

ClinVar
Risk	Rs1057516506(T;T)
Alt	Rs1057516506(T;T)
Reference	Rs1057516506(G;G)
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.187207568G>T
CLNSRC
CLNACC	RCV000412477.1,