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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
is asnp
is mentioned by
dbSNPrs28374544
ebirs28374544
HLIrs28374544
Exacrs28374544
Varsomers28374544
Maprs28374544
PheGenIrs28374544
hapmaprs28374544
1000 genomesrs28374544
hgdprs28374544
ensemblrs28374544
gopubmedrs28374544
geneviewrs28374544
scholarrs28374544
googlers28374544
pharmgkbrs28374544
gwascentralrs28374544
openSNPrs28374544
23andMers28374544
23andMe allrs28374544
SNP Nexus

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
Variation info
Gene ZFPM2 ZFPM2-AS1
CLNDBN Tetralogy of Fallot
Reversed 0
HGVS NC_000008.10:g.106814279A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006501.2,



GET Evidence
ZFPM2-S657G
aa_change Ser657Gly
aa_change_short S657G
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0422024
summary This variant is associated with Tetralogy of Fallot which typically has low penetrance alleles. High frequency in HapMap and 1000 genomes (11.4% and 18.8%, respectively) seems to contradict pathogenic hypothesis.