rs542967227

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 38.3/149

Chromosome

4

Position

186285765

Gene	F11, F11-AS1

is a	snp
is	mentioned by
dbSNP	rs542967227
dbSNP (classic)	rs542967227
ClinGen	rs542967227
ebi	rs542967227
HLI	rs542967227
Exac	rs542967227
Gnomad	rs542967227
Varsome	rs542967227
LitVar	rs542967227
Map	rs542967227
PheGenI	rs542967227
Biobank	rs542967227
1000 genomes	rs542967227
hgdp	rs542967227
ensembl	rs542967227
geneview	rs542967227
scholar	rs542967227
google	rs542967227
pharmgkb	rs542967227
gwascentral	rs542967227
openSNP	rs542967227
23andMe	rs542967227
SNPshot	rs542967227
SNPdbe	rs542967227
MSV3d	rs542967227
GWAS Ctlg	rs542967227

Max Magnitude

5

ClinVar
Risk	Rs542967227(A;A)
Alt	Rs542967227(A;A)
Reference	Rs542967227(G;G)
Significance	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.187206919G>A
CLNSRC
CLNACC	RCV000352684.1,