rs1057517171

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

186287783

Gene	F11, F11-AS1

is a	snp
is	mentioned by
dbSNP	rs1057517171
dbSNP (classic)	rs1057517171
ClinGen	rs1057517171
ebi	rs1057517171
HLI	rs1057517171
Exac	rs1057517171
Gnomad	rs1057517171
Varsome	rs1057517171
LitVar	rs1057517171
Map	rs1057517171
PheGenI	rs1057517171
Biobank	rs1057517171
1000 genomes	rs1057517171
hgdp	rs1057517171
ensembl	rs1057517171
geneview	rs1057517171
scholar	rs1057517171
google	rs1057517171
pharmgkb	rs1057517171
gwascentral	rs1057517171
openSNP	rs1057517171
23andMe	rs1057517171
SNPshot	rs1057517171
SNPdbe	rs1057517171
MSV3d	rs1057517171
GWAS Ctlg	rs1057517171

Max Magnitude

5

ClinVar
Risk	Rs1057517171(-;-)
Alt	Rs1057517171(-;-)
Reference	Rs1057517171(TCTGTGC;TCTGTGC)
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.187208937_187208943delTCTGTGC
CLNSRC
CLNACC	RCV000411882.1,