rs1057517116

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	5	Factor XI deficiency
(-;CGCGCAGCTTGT)	3	carrier of factor XI mutation
(CGCGCAGCTTGT;CGCGCAGCTTGT)	0	common/normal
(GTCGCGCAGCTT;GTCGCGCAGCTT)	0	common in clinvar

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

186276224

Gene

F11

is a	snp
is	mentioned by
dbSNP	rs1057517116
dbSNP (classic)	rs1057517116
ClinGen	rs1057517116
ebi	rs1057517116
HLI	rs1057517116
Exac	rs1057517116
Gnomad	rs1057517116
Varsome	rs1057517116
LitVar	rs1057517116
Map	rs1057517116
PheGenI	rs1057517116
Biobank	rs1057517116
1000 genomes	rs1057517116
hgdp	rs1057517116
ensembl	rs1057517116
geneview	rs1057517116
scholar	rs1057517116
google	rs1057517116
pharmgkb	rs1057517116
gwascentral	rs1057517116
openSNP	rs1057517116
23andMe	rs1057517116
SNPshot	rs1057517116
SNPdbe	rs1057517116
MSV3d	rs1057517116
GWAS Ctlg	rs1057517116

Max Magnitude

5

ClinVar
Risk	Rs1057517116(-;-)
Alt	Rs1057517116(-;-)
Reference	Rs1057517116(GTCGCGCAGCTT;GTCGCGCAGCTT)
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.187197378_187197389delCGCGCAGCTTGT
CLNSRC
CLNACC	RCV000411048.1,