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rs118203909

From SNPedia

Orientationminus
Stabilizedminus
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)
ReferenceGRCh38 38.1/141
Chromosome1
Position169541609
GeneF5
is asnp
is mentioned by
dbSNPrs118203909
dbSNP (classic)rs118203909
ClinGenrs118203909
ebirs118203909
HLIrs118203909
Exacrs118203909
Gnomadrs118203909
Varsomers118203909
LitVarrs118203909
Maprs118203909
PheGenIrs118203909
Biobankrs118203909
1000 genomesrs118203909
hgdprs118203909
ensemblrs118203909
geneviewrs118203909
scholarrs118203909
googlers118203909
pharmgkbrs118203909
gwascentralrs118203909
openSNPrs118203909
23andMers118203909
SNPshotrs118203909
SNPdbers118203909
MSV3drs118203909
GWAS Ctlgrs118203909
Max Magnitude5.5
OMIM612309
Desc
Variant0009
Relatedalso
ClinVar
Risk Rs118203909(T;T)
Alt Rs118203909(T;T)
Reference Rs118203909(C;C)
Significance Pathogenic
Disease Factor V deficiency
Variation info
Gene F5
CLNDBN Factor V deficiency
Reversed 1
HGVS NC_000001.10:g.169510847G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000685.2,