Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs187043152
rs187043152
ZFPM2 ; ZFPM2-AS1
CUI: C4015129
Disease: 46,XY SEX REVERSAL 9
46,XY SEX REVERSAL 9 		0.800 GeneticVariation UNIPROT

dbSNP: rs187043152
rs187043152
ZFPM2 ; ZFPM2-AS1
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 GeneticVariation UNIPROT

dbSNP: rs200834568
rs200834568
ZFPM2 ; ZFPM2-AS1
CUI: C4015129
Disease: 46,XY SEX REVERSAL 9
46,XY SEX REVERSAL 9 		0.800 GeneticVariation UNIPROT Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. 24549039

2014
dbSNP: rs606231252
rs606231252
ZFPM2 ; ZFPM2-AS1
CUI: C4015129
Disease: 46,XY SEX REVERSAL 9
46,XY SEX REVERSAL 9 		0.800 GeneticVariation UNIPROT

dbSNP: rs121908601
rs121908601
ZFPM2
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 GeneticVariation UNIPROT New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 20807224

2011
dbSNP: rs121908601
rs121908601
ZFPM2
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 GeneticVariation UNIPROT New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 20807224

2011
dbSNP: rs121908601
rs121908601
ZFPM2
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 GeneticVariation UNIPROT Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. 14517948

2003
dbSNP: rs202204708
rs202204708
ZFPM2 ; ZFPM2-AS1
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 GeneticVariation UNIPROT

dbSNP: rs28374544
rs28374544
ZFPM2 ; ZFPM2-AS1
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 GeneticVariation UNIPROT