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: rs200936057
rs200936057
1.000 0.080 17 4143774 missense variant C/G;T snv 4.8E-05; 2.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0
dbSNP: rs587777695
rs587777695
0.925 0.120 5 61544156 missense variant C/T snv
CUI: C1863616
Disease: ACROMELIC FRONTONASAL DYSOSTOSIS
ACROMELIC FRONTONASAL DYSOSTOSIS
0.800 1.000 1 2014 2016
dbSNP: rs145011101
rs145011101
1.000 0.080 19 56223783 missense variant C/G;T snv 9.5E-05; 4.0E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0
dbSNP: rs750071607
rs750071607
1.000 0.080 6 28126805 missense variant G/A snv 2.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0
dbSNP: rs1554625334
rs1554625334
ZP3
0.925 7 76429602 missense variant G/A snv
CUI: C4540205
Disease: OOCYTE MATURATION DEFECT 3
OOCYTE MATURATION DEFECT 3
0.800 1.000 1 2017 2017
dbSNP: rs148890852
rs148890852
1.000 0.080 17 36486940 missense variant C/T snv 4.2E-04 4.3E-04
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome
0.820 1.000 1 2017 2020
dbSNP: rs369664812
rs369664812
1.000 0.080 7 101223799 missense variant C/T snv 2.8E-05 4.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0
dbSNP: rs1060505033
rs1060505033
1.000 0.200 X 85264383 missense variant T/C snv
Mental Retardation, X-Linked, Znf711-Related
0.800 1.000 2 2009 2017
dbSNP: rs367654949
rs367654949
1.000 0.200 X 85255595 missense variant G/A;C snv 4.9E-05; 5.5E-06
Mental Retardation, X-Linked, Znf711-Related
0.700 1.000 2 2009 2017
dbSNP: rs760346140
rs760346140
1.000 0.200 X 85271344 missense variant A/G snv 5.5E-06 2.8E-05
Mental Retardation, X-Linked, Znf711-Related
0.700 1.000 2 2009 2017
dbSNP: rs777239465
rs777239465
1.000 0.200 X 85265160 missense variant A/G snv 3.8E-05 3.8E-05
Mental Retardation, X-Linked, Znf711-Related
0.700 1.000 2 2009 2017
dbSNP: rs148402804
rs148402804
0.925 0.040 1 151289853 missense variant C/A;G;T snv 2.4E-04; 2.1E-04; 1.2E-04
CUI: C4085250
Disease: PAGET DISEASE OF BONE 6
PAGET DISEASE OF BONE 6
0.800 0
dbSNP: rs869025582
rs869025582
1.000 1 151287016 missense variant G/T snv
CUI: C4085250
Disease: PAGET DISEASE OF BONE 6
PAGET DISEASE OF BONE 6
0.800 0
dbSNP: rs1429688220
rs1429688220
1.000 0.080 16 31064264 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 0
dbSNP: rs148738674
rs148738674
1.000 0.080 16 31061261 missense variant C/G;T snv 2.0E-04; 1.0E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 0
dbSNP: rs553159663
rs553159663
1.000 0.080 16 31062072 missense variant C/T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 0
dbSNP: rs149597385
rs149597385
1.000 1 90940441 missense variant C/T snv 7.6E-04 2.1E-04
CUI: C3279997
Disease: MYOPIA 21, AUTOSOMAL DOMINANT
MYOPIA 21, AUTOSOMAL DOMINANT
0.700 1.000 4 2011 2014
dbSNP: rs387907109
rs387907109
0.925 0.040 1 90939340 missense variant T/C snv 4.0E-06
CUI: C3279997
Disease: MYOPIA 21, AUTOSOMAL DOMINANT
MYOPIA 21, AUTOSOMAL DOMINANT
0.800 1.000 4 2011 2014
dbSNP: rs1050960158
rs1050960158
1.000 1 90938487 missense variant G/A;C snv 4.0E-06
CUI: C3279997
Disease: MYOPIA 21, AUTOSOMAL DOMINANT
MYOPIA 21, AUTOSOMAL DOMINANT
0.700 0
dbSNP: rs143932357
rs143932357
1.000 1 90940629 missense variant G/A snv 7.4E-04 2.2E-03
CUI: C3279997
Disease: MYOPIA 21, AUTOSOMAL DOMINANT
MYOPIA 21, AUTOSOMAL DOMINANT
0.700 0
dbSNP: rs146936371
rs146936371
1.000 1 90939595 missense variant T/A;C snv 2.0E-05
CUI: C3279997
Disease: MYOPIA 21, AUTOSOMAL DOMINANT
MYOPIA 21, AUTOSOMAL DOMINANT
0.800 0
dbSNP: rs193167060
rs193167060
1.000 1 90937907 missense variant T/A;C snv 4.0E-06; 2.4E-04
CUI: C3279997
Disease: MYOPIA 21, AUTOSOMAL DOMINANT
MYOPIA 21, AUTOSOMAL DOMINANT
0.700 0
dbSNP: rs201546602
rs201546602
1.000 1 90939306 missense variant C/G snv 1.5E-04 2.8E-05
CUI: C3279997
Disease: MYOPIA 21, AUTOSOMAL DOMINANT
MYOPIA 21, AUTOSOMAL DOMINANT
0.700 0
dbSNP: rs774685437
rs774685437
1.000 1 90940533 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C3279997
Disease: MYOPIA 21, AUTOSOMAL DOMINANT
MYOPIA 21, AUTOSOMAL DOMINANT
0.700 0
dbSNP: rs1349967796
rs1349967796
1.000 0.080 19 37414398 missense variant T/C snv 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 0