rs143648758

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

4

Position

186274198

Gene

F11

is a	snp
is	mentioned by
dbSNP	rs143648758
dbSNP (classic)	rs143648758
ClinGen	rs143648758
ebi	rs143648758
HLI	rs143648758
Exac	rs143648758
Gnomad	rs143648758
Varsome	rs143648758
LitVar	rs143648758
Map	rs143648758
PheGenI	rs143648758
Biobank	rs143648758
1000 genomes	rs143648758
hgdp	rs143648758
ensembl	rs143648758
geneview	rs143648758
scholar	rs143648758
google	rs143648758
pharmgkb	rs143648758
gwascentral	rs143648758
openSNP	rs143648758
23andMe	rs143648758
SNPshot	rs143648758
SNPdbe	rs143648758
MSV3d	rs143648758
GWAS Ctlg	rs143648758

Max Magnitude

5

ClinVar
Risk	Rs143648758(A;A)
Alt	Rs143648758(A;A)
Reference	Rs143648758(C;C)
Significance	Probable-Pathogenic
Disease	Hereditary factor XI deficiency disease
Variation	info
Gene	F11
CLNDBN	Hereditary factor XI deficiency disease
Reversed	0
HGVS	NC_000004.11:g.187195352C>A
CLNSRC
CLNACC	RCV000169275.1,