Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs200834568
rs200834568
ZFPM2 ; ZFPM2-AS1
1.000 8 105798763 missense variant G/A;C snv 2.8E-05; 4.0E-06
CUI: C4015129
Disease: 46,XY SEX REVERSAL 9
46,XY SEX REVERSAL 9 		0.800 1.000 1 2014 2014
dbSNP: rs187043152
rs187043152
ZFPM2 ; ZFPM2-AS1
0.851 0.080 8 105801714 missense variant G/A;T snv 3.4E-03; 4.0E-06
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.800 0
dbSNP: rs187043152
rs187043152
ZFPM2 ; ZFPM2-AS1
0.851 0.080 8 105801714 missense variant G/A;T snv 3.4E-03; 4.0E-06
CUI: C4015129
Disease: 46,XY SEX REVERSAL 9
46,XY SEX REVERSAL 9 		0.800 0
dbSNP: rs606231252
rs606231252
ZFPM2 ; ZFPM2-AS1
1.000 8 105801288 missense variant T/A snv
CUI: C4015129
Disease: 46,XY SEX REVERSAL 9
46,XY SEX REVERSAL 9 		0.800 0
dbSNP: rs121908601
rs121908601
ZFPM2
0.851 0.080 8 105419192 missense variant A/C;G snv 4.0E-06; 2.7E-03
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 1.000 2 2003 2011
dbSNP: rs121908601
rs121908601
ZFPM2
0.851 0.080 8 105419192 missense variant A/C;G snv 4.0E-06; 2.7E-03
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 1.000 1 2011 2011
dbSNP: rs202204708
rs202204708
ZFPM2 ; ZFPM2-AS1
0.882 0.080 8 105788864 missense variant A/G snv 4.5E-04 4.7E-04
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 0
dbSNP: rs28374544
rs28374544
ZFPM2 ; ZFPM2-AS1
1.000 0.080 8 105802051 missense variant A/G snv 1.1E-02 4.4E-02
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 0