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: rs771503724
rs771503724
ZNF532
1.000 0.080 18 58934551 missense variant C/T snv 1.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs267607182
rs267607182
ZNF513
0.925 0.080 2 27378156 missense variant A/G snv 1.8E-04 6.3E-05
CUI: C3150879
Disease: RETINITIS PIGMENTOSA 58
RETINITIS PIGMENTOSA 58 		0.700 1.000 1 2010 2010
dbSNP: rs10414971
rs10414971
ZNF442
1.000 0.080 19 12351131 missense variant G/A snv 1.9E-03 7.8E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs757755988
rs757755988
ZNF442
1.000 0.080 19 12350857 missense variant C/G;T snv 6.0E-05; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs755035378
rs755035378
ZNF432
1.000 0.080 19 52034210 missense variant C/T snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs200399581
rs200399581
ZNF43
1.000 0.080 19 21809307 missense variant G/A snv 1.8E-04 2.0E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs373273223
rs373273223
ZNF408
0.882 0.080 11 46705063 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C4225316
Disease: EXUDATIVE VITREORETINOPATHY 6
EXUDATIVE VITREORETINOPATHY 6 		0.800 1.000 1 2013 2013
dbSNP: rs536561101
rs536561101
ZNF408
1.000 11 46702750 missense variant G/A snv 4.4E-05 2.8E-05
CUI: C4225316
Disease: EXUDATIVE VITREORETINOPATHY 6
EXUDATIVE VITREORETINOPATHY 6 		0.700 1.000 1 2013 2013
dbSNP: rs781192528
rs781192528
ZNF408
0.925 0.080 11 46705321 missense variant C/T snv 2.4E-05
CUI: C4225315
Disease: RETINITIS PIGMENTOSA 72
RETINITIS PIGMENTOSA 72 		0.800 1.000 1 2015 2015
dbSNP: rs757067821
rs757067821
ZNF385D
1.000 0.080 3 21421246 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs397514642
rs397514642
ZNF335
1.000 20 45950453 missense variant C/A;T snv
CUI: C3554499
Disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2012 2012
dbSNP: rs141660717
rs141660717
ZNF318
1.000 0.080 6 43354899 missense variant T/C snv 7.2E-05 3.6E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs767530299
rs767530299
ZNF217
1.000 0.080 20 53581860 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs1345352474
rs1345352474
ZNF155 ; LOC101928063
1.000 0.080 19 43997278 missense variant A/G snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs587776959
rs587776959
ZNF141
1.000 4 373858 missense variant C/T snv 4.2E-06
CUI: C3808889
Disease: POLYDACTYLY, POSTAXIAL, TYPE A6
POLYDACTYLY, POSTAXIAL, TYPE A6 		0.800 1.000 0 2013 2013
dbSNP: rs138815960
rs138815960
ZMYND10
0.925 0.160 3 50345533 splice donor variant A/C snv 2.7E-04 2.1E-04
CUI: C3809543
Disease: CILIARY DYSKINESIA, PRIMARY, 22
CILIARY DYSKINESIA, PRIMARY, 22 		0.800 1.000 4 2013 2018
dbSNP: rs587621539
rs587621539
ZMYND10
1.000 3 50345495 missense variant A/G snv 2.2E-05 9.8E-05
CUI: C3809543
Disease: CILIARY DYSKINESIA, PRIMARY, 22
CILIARY DYSKINESIA, PRIMARY, 22 		0.700 1.000 4 2013 2018
dbSNP: rs191217255
rs191217255
ZMYM4
1.000 0.080 1 35415633 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs121908093
rs121908093
ZMPSTE24
0.882 0.160 1 40285988 missense variant T/C snv
CUI: C1837756
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		0.800 1.000 4 2003 2010
dbSNP: rs121908095
rs121908095
ZMPSTE24
0.925 0.160 1 40272009 missense variant C/G;T snv 2.0E-05
CUI: C1837756
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		0.800 1.000 4 2003 2010
dbSNP: rs281875371
rs281875371
ZMPSTE24
0.925 0.160 1 40281367 missense variant A/G snv 1.2E-05 2.8E-05
CUI: C1837756
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		0.700 1.000 4 2003 2010
dbSNP: rs104894961
rs104894961
ZIC3
1.000 0.120 X 137567449 missense variant G/C snv
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.800 1.000 6 1997 2014
dbSNP: rs104894962
rs104894962
ZIC3
1.000 0.120 X 137569054 missense variant A/G snv
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.800 1.000 6 1997 2014
dbSNP: rs104894963
rs104894963
ZIC3
1.000 0.120 X 137567340 missense variant C/G snv 1.5E-03 6.4E-03
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.700 1.000 6 1997 2014
dbSNP: rs373628598
rs373628598
ZIC3
1.000 0.120 X 137567017 missense variant C/G snv 2.8E-05 1.4E-04
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		0.700 1.000 3 2004 2014