rs121965070

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs121965070(A;T)

Make rs121965070(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

186280065

Gene

F11

is a	snp
is	mentioned by
dbSNP	rs121965070
dbSNP (classic)	rs121965070
ClinGen	rs121965070
ebi	rs121965070
HLI	rs121965070
Exac	rs121965070
Gnomad	rs121965070
Varsome	rs121965070
LitVar	rs121965070
Map	rs121965070
PheGenI	rs121965070
Biobank	rs121965070
1000 genomes	rs121965070
hgdp	rs121965070
ensembl	rs121965070
geneview	rs121965070
scholar	rs121965070
google	rs121965070
pharmgkb	rs121965070
gwascentral	rs121965070
openSNP	rs121965070
23andMe	rs121965070
SNPshot	rs121965070
SNPdbe	rs121965070
MSV3d	rs121965070
GWAS Ctlg	rs121965070

Max Magnitude

0

OMIM	264900
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121965070(T;T)
Alt	rs121965070(T;T)
Reference	Rs121965070(A;A)
Significance	Other
Disease	Hereditary factor XI deficiency disease not provided
Variation	info
Gene	F11
CLNDBN	Hereditary factor XI deficiency disease not provided
Reversed	0
HGVS	NC_000004.11:g.187201219A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000012677.23, RCV000059034.1,

[PMID 15180874] Severe factor XI deficiency caused by compound heterozygosity.