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: rs762471803
rs762471803
0.925 0.040 11 102114201 missense variant T/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 0.500 2 2018 2019
dbSNP: rs11225138
rs11225138
0.925 0.200 11 102123167 intron variant G/C snv 6.1E-02
CUI: C0004096
Disease: Asthma
Asthma
0.010 1.000 1 2017 2017
dbSNP: rs11225138
rs11225138
0.925 0.200 11 102123167 intron variant G/C snv 6.1E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 1.000 1 2012 2012
dbSNP: rs11225161
rs11225161
1.000 0.120 11 102199763 intron variant C/T snv 7.0E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 1.000 1 2012 2012
dbSNP: rs1196220479
rs1196220479
0.851 0.120 11 102223635 missense variant G/A snv 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.010 1.000 1 2011 2011
dbSNP: rs1196220479
rs1196220479
0.851 0.120 11 102223635 missense variant G/A snv 4.0E-06
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.010 1.000 1 2011 2011
dbSNP: rs1196220479
rs1196220479
0.851 0.120 11 102223635 missense variant G/A snv 4.0E-06
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
0.010 1.000 1 2011 2011
dbSNP: rs1196220479
rs1196220479
0.851 0.120 11 102223635 missense variant G/A snv 4.0E-06
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma
0.010 1.000 1 2011 2011
dbSNP: rs1820453
rs1820453
0.925 0.080 11 102109604 non coding transcript exon variant C/A snv 0.54
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 1.000 1 2013 2013
dbSNP: rs1820453
rs1820453
0.925 0.080 11 102109604 non coding transcript exon variant C/A snv 0.54
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2013 2013
dbSNP: rs193100333
rs193100333
1.000 0.040 11 102209523 missense variant C/T snv 3.0E-04 1.1E-04
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 1.000 1 2015 2015
dbSNP: rs587777249
rs587777249
0.925 0.080 11 102114192 stop gained C/T snv
Congenital ocular coloboma (disorder)
0.010 1.000 1 2014 2014
dbSNP: rs587777250
rs587777250
0.925 0.080 11 102223655 stop gained G/T snv
Congenital ocular coloboma (disorder)
0.010 1.000 1 2014 2014
dbSNP: rs61746398
rs61746398
0.925 0.080 11 102205922 missense variant C/T snv 5.4E-04 7.0E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 1.000 1 2019 2019
dbSNP: rs61746398
rs61746398
0.925 0.080 11 102205922 missense variant C/T snv 5.4E-04 7.0E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs762471803
rs762471803
0.925 0.040 11 102114201 missense variant T/G snv
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.010 1.000 1 2019 2019
dbSNP: rs762471803
rs762471803
0.925 0.040 11 102114201 missense variant T/G snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 1.000 1 2018 2018
dbSNP: rs762471803
rs762471803
0.925 0.040 11 102114201 missense variant T/G snv
CUI: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma
0.010 1.000 1 2016 2016
dbSNP: rs762471803
rs762471803
0.925 0.040 11 102114201 missense variant T/G snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 1.000 1 2016 2016
dbSNP: rs762471803
rs762471803
0.925 0.040 11 102114201 missense variant T/G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 1.000 1 2016 2016