Source: CLINVAR

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: 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: 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: 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 0 2014 2014
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: rs121908602
rs121908602
ZFPM2 ; ZFPM2-AS1
1.000 0.040 8 105561395 stop gained C/T snv 7.0E-06
CUI: C1857781
Disease: Diaphragmatic Hernia 3
Diaphragmatic Hernia 3 		0.700 0
dbSNP: rs121908604
rs121908604
ZFPM2 ; ZFPM2-AS1
0.925 0.080 8 105802609 missense variant A/G snv
CUI: C1857781
Disease: Diaphragmatic Hernia 3
Diaphragmatic Hernia 3 		0.700 0
dbSNP: rs397514520
rs397514520
ZFPM2 ; ZFPM2-AS1
1.000 0.080 8 105788866 missense variant T/G snv
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		0.700 0
dbSNP: rs397514521
rs397514521
ZFPM2 ; ZFPM2-AS1
1.000 0.080 8 105802291 missense variant A/G snv
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		0.700 0