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rs28374544

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28374544(A;G)
Make rs28374544(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position105802051
GeneZFPM2, ZFPM2-AS1
is asnp
is mentioned by
dbSNPrs28374544
dbSNP (classic)rs28374544
ClinGenrs28374544
ebirs28374544
HLIrs28374544
Exacrs28374544
Gnomadrs28374544
Varsomers28374544
LitVarrs28374544
Maprs28374544
PheGenIrs28374544
Biobankrs28374544
1000 genomesrs28374544
hgdprs28374544
ensemblrs28374544
geneviewrs28374544
scholarrs28374544
googlers28374544
pharmgkbrs28374544
gwascentralrs28374544
openSNPrs28374544
23andMers28374544
23andMe allrs28374544
SNPshotrs28374544
SNPdbers28374544
MSV3drs28374544
GWAS Ctlgrs28374544
GMAF0.03306
Max Magnitude0
? (A;A) (A;G) (G;G) 28


OMIM603693
DescTETRALOGY OF FALLOT
Variant0001
Relatedalso


ClinVar
Risk rs28374544(G;G)
Alt rs28374544(G;G)
Reference Rs28374544(A;A)
Significance Pathogenic
Disease Tetralogy of Fallot 46
Variation info
Gene ZFPM2 ZFPM2-AS1
CLNDBN Tetralogy of Fallot 46,XY sex reversal 9
Reversed 0
HGVS NC_000008.10:g.106814279A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006501.2, RCV000467901.1,