Have questions? Visit https://www.reddit.com/r/SNPedia

rs62623459

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs62623459(A;A)
Make rs62623459(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position46725897
GeneF2
is asnp
is mentioned by
dbSNPrs62623459
ebirs62623459
HLIrs62623459
Exacrs62623459
Varsomers62623459
Maprs62623459
PheGenIrs62623459
hapmaprs62623459
1000 genomesrs62623459
hgdprs62623459
ensemblrs62623459
gopubmedrs62623459
geneviewrs62623459
scholarrs62623459
googlers62623459
pharmgkbrs62623459
gwascentralrs62623459
openSNPrs62623459
23andMers62623459
23andMe allrs62623459
SNP Nexus

SNPshotrs62623459
SNPdbers62623459
MSV3drs62623459
GWAS Ctlgrs62623459
GMAF0.0009183
Max Magnitude0
OMIM176930
Desc
Variant0001
Relatedalso
ClinVar
Risk rs62623459(A;A)
Alt rs62623459(A;A)
Reference rs62623459(G;G)
Significance Pathogenic
Disease PROTHROMBIN TYPE 3
Variation info
Gene F2
CLNDBN PROTHROMBIN TYPE 3
Reversed 0
HGVS NC_000011.9:g.46747447G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014229.25,


GET Evidence
F2-E200K
aa_change Glu200Lys
aa_change_short E200K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.00148726
summary