rs121965072

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

4

Position

186288496

Gene	F11, F11-AS1

is a	snp
is	mentioned by
dbSNP	rs121965072
dbSNP (classic)	rs121965072
ClinGen	rs121965072
ebi	rs121965072
HLI	rs121965072
Exac	rs121965072
Gnomad	rs121965072
Varsome	rs121965072
LitVar	rs121965072
Map	rs121965072
PheGenI	rs121965072
Biobank	rs121965072
1000 genomes	rs121965072
hgdp	rs121965072
ensembl	rs121965072
geneview	rs121965072
scholar	rs121965072
google	rs121965072
pharmgkb	rs121965072
gwascentral	rs121965072
openSNP	rs121965072
23andMe	rs121965072
SNPshot	rs121965072
SNPdbe	rs121965072
MSV3d	rs121965072
GWAS Ctlg	rs121965072

Max Magnitude

5

aka c.1760G>C (p.Trp587Ser)

23andMe name: i5001632

OMIM	264900
Desc
Variant	0015
Related	also

ClinVar
Risk	Rs121965072(C;C)
Alt	Rs121965072(C;C)
Reference	Rs121965072(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.187209650G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012679.18,