rs118203910

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a Factor V deficiency mutation
(T;T)	5.5	Hemophilia A (severity varies)

Reference

GRCh38 38.1/141

Chromosome

1

Position

169518453

Gene

F5

is a	snp
is	mentioned by
dbSNP	rs118203910
dbSNP (classic)	rs118203910
ClinGen	rs118203910
ebi	rs118203910
HLI	rs118203910
Exac	rs118203910
Gnomad	rs118203910
Varsome	rs118203910
LitVar	rs118203910
Map	rs118203910
PheGenI	rs118203910
Biobank	rs118203910
1000 genomes	rs118203910
hgdp	rs118203910
ensembl	rs118203910
geneview	rs118203910
scholar	rs118203910
google	rs118203910
pharmgkb	rs118203910
gwascentral	rs118203910
openSNP	rs118203910
23andMe	rs118203910
SNPshot	rs118203910
SNPdbe	rs118203910
MSV3d	rs118203910
GWAS Ctlg	rs118203910

Max Magnitude

5.5

OMIM	612309
Desc
Variant	0012
Related	also

ClinVar
Risk	Rs118203910(T;T)
Alt	Rs118203910(T;T)
Reference	Rs118203910(C;C)
Significance	Pathogenic
Disease	Factor V deficiency
Variation	info
Gene	F5
CLNDBN	Factor V deficiency
Reversed	1
HGVS	NC_000001.10:g.169487691G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000688.2,