rs281875251

plus

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

Make rs281875251(A;A)

Make rs281875251(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

186288525

Gene	F11, F11-AS1

is a	snp
is	mentioned by
dbSNP	rs281875251
dbSNP (classic)	rs281875251
ClinGen	rs281875251
ebi	rs281875251
HLI	rs281875251
Exac	rs281875251
Gnomad	rs281875251
Varsome	rs281875251
LitVar	rs281875251
Map	rs281875251
PheGenI	rs281875251
Biobank	rs281875251
1000 genomes	rs281875251
hgdp	rs281875251
ensembl	rs281875251
geneview	rs281875251
scholar	rs281875251
google	rs281875251
pharmgkb	rs281875251
gwascentral	rs281875251
openSNP	rs281875251
23andMe	rs281875251
SNPshot	rs281875251
SNPdbe	rs281875251
MSV3d	rs281875251
GWAS Ctlg	rs281875251

Max Magnitude

5

aka c.1789G>T (p.Glu597Ter) and also c.1789G>A (p.Glu597Lys); the former is pathogenic in ClinVar for Factor XI deficiency, but the latter is of uncertain significance

note that 23andMe tests the c.1789G>A VUS under the name i6009888

ClinVar
Risk	rs281875251(A;A) Rs281875251(T;T)
Alt	rs281875251(A;A) Rs281875251(T;T)
Reference	Rs281875251(G;G)
Significance	Probable-Pathogenic
Disease	not provided Hereditary factor XI deficiency disease
Variation	info
Gene	F11
CLNDBN	not provided Hereditary factor XI deficiency disease
Reversed	0
HGVS	NC_000004.11:g.187209679G>A; NC_000004.11:g.187209679G>T
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059020.1, RCV000411308.1,