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rs118203905

From SNPedia

Orientationminus
Stabilizedminus
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)
ReferenceGRCh38 38.1/141
Chromosome1
Position169555300
GeneF5
is asnp
is mentioned by
dbSNPrs118203905
dbSNP (classic)rs118203905
ClinGenrs118203905
ebirs118203905
HLIrs118203905
Exacrs118203905
Gnomadrs118203905
Varsomers118203905
LitVarrs118203905
Maprs118203905
PheGenIrs118203905
Biobankrs118203905
1000 genomesrs118203905
hgdprs118203905
ensemblrs118203905
geneviewrs118203905
scholarrs118203905
googlers118203905
pharmgkbrs118203905
gwascentralrs118203905
openSNPrs118203905
23andMers118203905
SNPshotrs118203905
SNPdbers118203905
MSV3drs118203905
GWAS Ctlgrs118203905
GMAF0.001377
Max Magnitude5.5
OMIM612309
Desc
Variant0002
Relatedalso
ClinVar
Risk Rs118203905(G;G)
Alt Rs118203905(G;G)
Reference Rs118203905(A;A)
Significance Pathogenic
Disease Factor V Hong Kong
Variation info
Gene F5
CLNDBN Factor V Hong Kong
Reversed 1
HGVS NC_000001.10:g.169524538T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000677.2,