rs118203907

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

169530805

Gene

F5

is a	snp
is	mentioned by
dbSNP	rs118203907
dbSNP (classic)	rs118203907
ClinGen	rs118203907
ebi	rs118203907
HLI	rs118203907
Exac	rs118203907
Gnomad	rs118203907
Varsome	rs118203907
LitVar	rs118203907
Map	rs118203907
PheGenI	rs118203907
Biobank	rs118203907
1000 genomes	rs118203907
hgdp	rs118203907
ensembl	rs118203907
geneview	rs118203907
scholar	rs118203907
google	rs118203907
pharmgkb	rs118203907
gwascentral	rs118203907
openSNP	rs118203907
23andMe	rs118203907
SNPshot	rs118203907
SNPdbe	rs118203907
MSV3d	rs118203907
GWAS Ctlg	rs118203907

Max Magnitude

5.5

OMIM	612309
Desc
Variant	0007
Related	also

ClinVar
Risk	Rs118203907(G;G)
Alt	Rs118203907(G;G)
Reference	Rs118203907(A;A)
Significance	Pathogenic
Disease	Factor V deficiency
Variation	info
Gene	F5
CLNDBN	Factor V deficiency
Reversed	1
HGVS	NC_000001.10:g.169500043T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000683.2,