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rs118203908

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
Position169542689
GeneF5
is asnp
is mentioned by
dbSNPrs118203908
dbSNP (classic)rs118203908
ClinGenrs118203908
ebirs118203908
HLIrs118203908
Exacrs118203908
Gnomadrs118203908
Varsomers118203908
LitVarrs118203908
Maprs118203908
PheGenIrs118203908
Biobankrs118203908
1000 genomesrs118203908
hgdprs118203908
ensemblrs118203908
geneviewrs118203908
scholarrs118203908
googlers118203908
pharmgkbrs118203908
gwascentralrs118203908
openSNPrs118203908
23andMers118203908
SNPshotrs118203908
SNPdbers118203908
MSV3drs118203908
GWAS Ctlgrs118203908
Max Magnitude5.5
OMIM612309
Desc
Variant0008
Relatedalso
ClinVar
Risk Rs118203908(T;T)
Alt Rs118203908(T;T)
Reference Rs118203908(C;C)
Significance Pathogenic
Disease Factor V deficiency
Variation info
Gene F5
CLNDBN Factor V deficiency
Reversed 1
HGVS NC_000001.10:g.169511927G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000684.2,