Source: BEFREE

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 1 2013 2019
dbSNP: rs13382811
rs13382811
ZEB2
0.882 0.040 2 144466053 intron variant C/T snv 0.21
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.020 1.000 2 2017 2019
dbSNP: rs13382811
rs13382811
ZEB2
0.882 0.040 2 144466053 intron variant C/T snv 0.21
CUI: C0027092
Disease: Myopia
Myopia 		0.020 0.500 2 2017 2019
dbSNP: rs13017697
rs13017697
ZEB2
1.000 0.080 2 144399748 missense variant G/A;T snv 7.0E-06
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.010 1.000 1 2014 2014
dbSNP: rs13382811
rs13382811
ZEB2
0.882 0.040 2 144466053 intron variant C/T snv 0.21
CUI: C0034951
Disease: Refractive Errors
Refractive Errors 		0.010 1.000 1 2019 2019
dbSNP: rs34961586
rs34961586
ZEB2
1.000 0.080 2 144403925 synonymous variant C/G;T snv 5.8E-04
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.010 1.000 1 2014 2014
dbSNP: rs6755392
rs6755392
ZEB2
1.000 0.040 2 144484555 intron variant A/G snv 0.60
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2016 2016
dbSNP: rs786204815
rs786204815
ZEB2
0.882 0.360 2 144400160 stop gained G/A snv
CUI: C0796033
Disease: MARDEN-WALKER SYNDROME
MARDEN-WALKER SYNDROME 		0.010 1.000 1 2019 2019
dbSNP: rs786204815
rs786204815
ZEB2
0.882 0.360 2 144400160 stop gained G/A snv
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome 		0.010 1.000 1 2019 2019