rs1057517035

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

186285723

Gene	F11, F11-AS1

is a	snp
is	mentioned by
dbSNP	rs1057517035
dbSNP (classic)	rs1057517035
ClinGen	rs1057517035
ebi	rs1057517035
HLI	rs1057517035
Exac	rs1057517035
Gnomad	rs1057517035
Varsome	rs1057517035
LitVar	rs1057517035
Map	rs1057517035
PheGenI	rs1057517035
Biobank	rs1057517035
1000 genomes	rs1057517035
hgdp	rs1057517035
ensembl	rs1057517035
geneview	rs1057517035
scholar	rs1057517035
google	rs1057517035
pharmgkb	rs1057517035
gwascentral	rs1057517035
openSNP	rs1057517035
23andMe	rs1057517035
SNPshot	rs1057517035
SNPdbe	rs1057517035
MSV3d	rs1057517035
GWAS Ctlg	rs1057517035

Max Magnitude

5

ClinVar
Risk	Rs1057517035(T;T)
Alt	Rs1057517035(T;T)
Reference	Rs1057517035(C;C)
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.187206877C>T
CLNSRC
CLNACC	RCV000410709.1,