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rs137852913

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852913(C;G)
Make rs137852913(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position46905517
GeneMCFD2
is asnp
is mentioned by
dbSNPrs137852913
dbSNP (classic)rs137852913
ClinGenrs137852913
ebirs137852913
HLIrs137852913
Exacrs137852913
Gnomadrs137852913
Varsomers137852913
LitVarrs137852913
Maprs137852913
PheGenIrs137852913
Biobankrs137852913
1000 genomesrs137852913
hgdprs137852913
ensemblrs137852913
geneviewrs137852913
scholarrs137852913
googlers137852913
pharmgkbrs137852913
gwascentralrs137852913
openSNPrs137852913
23andMers137852913
SNPshotrs137852913
SNPdbers137852913
MSV3drs137852913
GWAS Ctlgrs137852913
Max Magnitude0
OMIM607788
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852913(G;G)
Alt rs137852913(G;G)
Reference Rs137852913(C;C)
Significance Pathogenic
Disease Factor v and factor viii
Variation info
Gene MCFD2
CLNDBN Factor v and factor viii, combined deficiency of, 2
Reversed 1
HGVS NC_000002.11:g.47132656G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003004.2,