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: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 1.000 1 2006 2006
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome
0.010 1.000 1 2020 2020
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.010 1.000 1 2014 2014
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma
0.010 < 0.001 1 2010 2010
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon
0.010 1.000 1 2012 2012
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
Malignant neoplasm of colon and/or rectum
0.010 1.000 1 2008 2008
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast
0.010 < 0.001 1 2019 2019
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 1.000 1 2006 2006
dbSNP: rs1045485
rs1045485
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2014 2014