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: rs11564475
rs11564475
0.882 0.080 3 41238542 intron variant A/G snv 3.7E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 1.000 1 2012 2012
dbSNP: rs11564475
rs11564475
0.882 0.080 3 41238542 intron variant A/G snv 3.7E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 1.000 1 2012 2012
dbSNP: rs11564475
rs11564475
0.882 0.080 3 41238542 intron variant A/G snv 3.7E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs1798802
rs1798802
3 41220488 intron variant A/G snv 0.43
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 1.000 1 2017 2017
dbSNP: rs1798802
rs1798802
3 41220488 intron variant A/G snv 0.43
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 1.000 1 2017 2017
dbSNP: rs1880481
rs1880481
0.925 0.080 3 41230590 intron variant C/A snv 0.40
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 1.000 1 2012 2012
dbSNP: rs1880481
rs1880481
0.925 0.080 3 41230590 intron variant C/A snv 0.40
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 1.000 1 2012 2012
dbSNP: rs4533622
rs4533622
0.807 0.240 3 41200847 intron variant C/A;T snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.010 1.000 1 2014 2014
dbSNP: rs4533622
rs4533622
0.807 0.240 3 41200847 intron variant C/A;T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.010 1.000 1 2019 2019
dbSNP: rs4533622
rs4533622
0.807 0.240 3 41200847 intron variant C/A;T snv
CUI: C0027947
Disease: Neutropenia
Neutropenia
0.010 1.000 1 2015 2015
dbSNP: rs4533622
rs4533622
0.807 0.240 3 41200847 intron variant C/A;T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.010 1.000 1 2014 2014
dbSNP: rs4533622
rs4533622
0.807 0.240 3 41200847 intron variant C/A;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.010 1.000 1 2014 2014
dbSNP: rs4533622
rs4533622
0.807 0.240 3 41200847 intron variant C/A;T snv
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.010 1.000 1 2015 2015
dbSNP: rs1131692181
rs1131692181
0.925 0.040 3 41234286 stop gained C/T snv
CUI: C0267026
Disease: Actinic cheilitis
Actinic cheilitis
0.010 1.000 1 2019 2019
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive
0.090 1.000 9 2013 2019
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 1.000 7 1998 2019
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive
0.060 1.000 6 2015 2019
dbSNP: rs121913407
rs121913407
0.763 0.240 3 41224645 missense variant T/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 1.000 5 1999 2019
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 1.000 5 2002 2019
dbSNP: rs121913228
rs121913228
0.742 0.200 3 41224621 missense variant T/C;G snv
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma
0.030 1.000 3 2007 2012
dbSNP: rs121913400
rs121913400
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 1.000 3 2011 2019
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.820 1.000 2 2016 2018
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0016048
Disease: Fibromatosis
Fibromatosis
0.020 1.000 2 2012 2013
dbSNP: rs28931588
rs28931588
0.701 0.200 3 41224606 missense variant G/A;C;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
0.820 1.000 2 1999 2009
dbSNP: rs1057519837
rs1057519837
1.000 0.040 3 41224631 missense variant C/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.710 1.000 1 2011 2014