rs1057517204

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

186285637

Gene	F11, F11-AS1

is a	snp
is	mentioned by
dbSNP	rs1057517204
dbSNP (classic)	rs1057517204
ClinGen	rs1057517204
ebi	rs1057517204
HLI	rs1057517204
Exac	rs1057517204
Gnomad	rs1057517204
Varsome	rs1057517204
LitVar	rs1057517204
Map	rs1057517204
PheGenI	rs1057517204
Biobank	rs1057517204
1000 genomes	rs1057517204
hgdp	rs1057517204
ensembl	rs1057517204
geneview	rs1057517204
scholar	rs1057517204
google	rs1057517204
pharmgkb	rs1057517204
gwascentral	rs1057517204
openSNP	rs1057517204
23andMe	rs1057517204
SNPshot	rs1057517204
SNPdbe	rs1057517204
MSV3d	rs1057517204
GWAS Ctlg	rs1057517204

Max Magnitude

5

ClinVar
Risk	Rs1057517204(A;A)
Alt	Rs1057517204(A;A)
Reference	Rs1057517204(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.187206791G>A
CLNSRC
CLNACC	RCV000410824.1,