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: rs122462165
rs122462165
ZIC3
1.000 0.120 X 137567659 missense variant C/T snv
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.800 0
dbSNP: rs122463168
rs122463168
ZIC3
1.000 0.120 X 137567454 missense variant T/G snv
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.800 0
dbSNP: rs1185333947
rs1185333947
ZIC2
1.000 0.120 13 99982171 missense variant A/C snv 7.0E-06
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5 		0.700 0
dbSNP: rs1057517670
rs1057517670
ZIC1
1.000 3 147413405 missense variant G/C snv
CUI: C4225269
Disease: CRANIOSYNOSTOSIS 6
CRANIOSYNOSTOSIS 6 		0.700 0
dbSNP: rs35077384
rs35077384
ZFYVE27
1.000 0.080 10 97749494 missense variant G/T snv 9.9E-03; 4.0E-06 2.7E-02
CUI: C1853251
Disease: Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 33, Autosomal Dominant 		0.800 0
dbSNP: rs200595749
rs200595749
ZFYVE26
0.925 0.080 14 67766404 missense variant C/T snv 8.8E-05 9.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 0 2011 2011
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: 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
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: rs78378398
rs78378398
ZFP57
1.000 0.120 6 29673282 missense variant G/A;T snv
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.800 1.000 2 2000 2008
dbSNP: rs199589695
rs199589695
ZFP57
1.000 0.120 6 29673362 missense variant C/T snv 4.1E-05 7.0E-05
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		0.700 1.000 1 2008 2008
dbSNP: rs137852983
rs137852983
ZEB2
1.000 0.280 2 144389740 missense variant T/C snv
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		0.800 1.000 5 2001 2011
dbSNP: rs779148597
rs779148597
ZEB1
0.882 0.080 10 31521255 missense variant G/T snv 8.0E-06 7.0E-06
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		0.700 1.000 3 2010 2014
dbSNP: rs781750314
rs781750314
ZEB1
1.000 0.080 10 31521280 missense variant C/G snv 1.6E-05 5.6E-05
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		0.700 1.000 3 2010 2014
dbSNP: rs78449005
rs78449005
ZEB1
1.000 0.080 10 31524045 missense variant C/G snv 4.9E-04 1.6E-03
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		0.700 1.000 3 2010 2014
dbSNP: rs118020901
rs118020901
ZEB1
0.925 0.080 10 31521854 missense variant A/C;G snv 7.4E-03; 4.0E-06
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		0.800 0
dbSNP: rs199944415
rs199944415
ZEB1
1.000 0.080 10 31521764 missense variant A/C;G snv 2.4E-05; 4.8E-05
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		0.700 0
dbSNP: rs567252241
rs567252241
ZEB1
1.000 0.080 10 31521422 missense variant A/G snv 2.0E-05 3.5E-05
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		0.700 0
dbSNP: rs80194531
rs80194531
ZEB1
1.000 0.080 10 31461211 missense variant A/C snv 3.9E-03 1.6E-02
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		0.700 0
dbSNP: rs137852214
rs137852214
ZDHHC9
1.000 X 129823724 missense variant G/A snv
CUI: C3275406
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE 		0.800 0