rs121965071

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

4

Position

186284209

Gene

F11

is a	snp
is	mentioned by
dbSNP	rs121965071
dbSNP (classic)	rs121965071
ClinGen	rs121965071
ebi	rs121965071
HLI	rs121965071
Exac	rs121965071
Gnomad	rs121965071
Varsome	rs121965071
LitVar	rs121965071
Map	rs121965071
PheGenI	rs121965071
Biobank	rs121965071
1000 genomes	rs121965071
hgdp	rs121965071
ensembl	rs121965071
geneview	rs121965071
scholar	rs121965071
google	rs121965071
pharmgkb	rs121965071
gwascentral	rs121965071
openSNP	rs121965071
23andMe	rs121965071
SNPshot	rs121965071
SNPdbe	rs121965071
MSV3d	rs121965071
GWAS Ctlg	rs121965071

Max Magnitude

5

aka c.1253G>T (p.Gly418Val)

23andMe name: i5001633

OMIM	264900
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121965071(A;A) Rs121965071(T;T)
Alt	rs121965071(A;A) Rs121965071(T;T)
Reference	Rs121965071(G;G)
Significance	Other
Disease	Hereditary factor XI deficiency disease
Variation	info
Gene	F11
CLNDBN	Hereditary factor XI deficiency disease
Reversed	0
HGVS	NC_000004.11:g.187205363G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012678.26,