Source: ALL

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: rs12991836
rs12991836
ZEB2
1.000 0.040 2 144383974 intron variant A/C;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.810 1.000 5 2013 2019
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: rs12105918
rs12105918
ZEB2
1.000 0.120 2 144450626 intron variant T/C snv 6.1E-02
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.800 1.000 2 2013 2017
dbSNP: rs72858496
rs72858496
ZEB2
1.000 0.120 2 144452349 intron variant C/T snv 5.9E-02
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.800 1.000 2 2013 2015
dbSNP: rs1553961516
rs1553961516
ZEB2
1.000 2 144398578 stop gained G/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 2005 2017
dbSNP: rs1553961516
rs1553961516
ZEB2
1.000 2 144398578 stop gained G/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 8 2005 2017
dbSNP: rs1553961697
rs1553961697
ZEB2
2 144399650 frameshift variant G/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 8 2005 2017
dbSNP: rs587784570
rs587784570
ZEB2
0.925 0.280 2 144401292 stop gained G/A;C snv 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 2005 2017
dbSNP: rs587784570
rs587784570
ZEB2
0.925 0.280 2 144401292 stop gained G/A;C snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 8 2005 2017
dbSNP: rs727503784
rs727503784
ZEB2
1.000 0.280 2 144429811 frameshift variant A/- del
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		0.700 1.000 2 1991 2008
dbSNP: rs10164806
rs10164806
ZEB2
2 144435759 intron variant C/T snv 6.7E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2018 2018
dbSNP: rs10164806
rs10164806
ZEB2
2 144435759 intron variant C/T snv 6.7E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs10192562
rs10192562
ZEB2
2 144426749 non coding transcript exon variant A/G snv 7.1E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2018 2018
dbSNP: rs10210063
rs10210063
ZEB2
2 144425390 intron variant C/G snv 7.9E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2018 2018
dbSNP: rs12105521
rs12105521
ZEB2
1.000 0.120 2 144450769 intron variant G/A;T snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1.000 1 2013 2013
dbSNP: rs12991836
rs12991836
ZEB2
1.000 0.040 2 144383974 intron variant A/C;T snv
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 1.000 1 2019 2019
dbSNP: rs13382811
rs13382811
ZEB2
0.882 0.040 2 144466053 intron variant C/T snv 0.21
CUI: C0154778
Disease: Myopia, Degenerative
Myopia, Degenerative 		0.700 1.000 1 2013 2013
dbSNP: rs13401103
rs13401103
ZEB2
1.000 0.120 2 144441056 intron variant G/A;T snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1.000 1 2013 2013
dbSNP: rs137852981
rs137852981
ZEB2
0.752 0.480 2 144399104 stop gained G/A snv
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		0.700 1.000 1 2001 2001
dbSNP: rs1560607925
rs1560607925
ZEB2
1.000 0.280 2 144401309 splice acceptor variant T/C snv
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		0.700 1.000 1 2005 2005
dbSNP: rs1560618505
rs1560618505
ZEB2
1.000 0.280 2 144424848 stop gained A/T snv
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		0.700 1.000 1 2007 2007
dbSNP: rs398124282
rs398124282
ZEB2
1.000 0.280 2 144517276 splice donor variant A/G snv
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		0.700 1.000 1 2005 2005
dbSNP: rs6740731
rs6740731
ZEB2
1.000 0.040 2 144513025 3 prime UTR variant G/A;C;T snv 0.25
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.700 1.000 1 2018 2018
dbSNP: rs72858474
rs72858474
ZEB2
1.000 0.120 2 144441322 intron variant G/A snv 6.2E-02
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1.000 1 2013 2013
dbSNP: rs1060499770
rs1060499770
ZEB2
2 144429823 frameshift variant ACCCTCC/- delins
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0