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: rs104893624
rs104893624
0.851 0.200 2 136114928 stop gained G/A snv
CUI: C0472817
Disease: WHIM syndrome
WHIM syndrome
0.750 1.000 5 2003 2016
dbSNP: rs104893626
rs104893626
0.827 0.280 2 136114915 stop gained G/C snv
CUI: C0472817
Disease: WHIM syndrome
WHIM syndrome
0.720 1.000 2 2014 2015
dbSNP: rs767830104
rs767830104
0.752 0.280 2 136115399 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.050 1.000 5 2001 2012
dbSNP: rs104893626
rs104893626
0.827 0.280 2 136114915 stop gained G/C snv
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia
0.030 1.000 3 2014 2016
dbSNP: rs371074389
rs371074389
0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 1.000 3 2006 2015
dbSNP: rs763059810
rs763059810
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection
0.030 1.000 3 2002 2014
dbSNP: rs763059810
rs763059810
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
Human immunodeficiency virus (HIV) II infection category B1
0.030 1.000 3 2001 2011
dbSNP: rs766914563
rs766914563
0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 1.000 3 2006 2015
dbSNP: rs781172058
rs781172058
0.732 0.320 2 136115340 synonymous variant C/T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 1.000 3 2006 2015
dbSNP: rs2228014
rs2228014
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 1.000 2 2009 2015
dbSNP: rs2228014
rs2228014
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 1.000 2 2009 2015
dbSNP: rs2228014
rs2228014
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 1.000 2 2009 2018
dbSNP: rs371074389
rs371074389
0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 1.000 2 2009 2012
dbSNP: rs763059810
rs763059810
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
Malignant neoplasm of urinary bladder
0.020 1.000 2 2010 2012
dbSNP: rs763059810
rs763059810
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 1.000 2 2013 2013
dbSNP: rs763059810
rs763059810
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 1.000 2 2012 2016
dbSNP: rs763059810
rs763059810
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.020 1.000 2 2010 2012
dbSNP: rs763059810
rs763059810
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.020 0.500 2 2012 2015
dbSNP: rs763059810
rs763059810
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 1.000 2 2013 2013
dbSNP: rs763059810
rs763059810
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.020 0.500 2 2015 2019
dbSNP: rs763059810
rs763059810
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.020 0.500 2 2012 2015
dbSNP: rs763059810
rs763059810
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.020 1.000 2 2010 2012
dbSNP: rs766914563
rs766914563
0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 1.000 2 2009 2012
dbSNP: rs767830104
rs767830104
0.752 0.280 2 136115399 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.020 1.000 2 2008 2012
dbSNP: rs767830104
rs767830104
0.752 0.280 2 136115399 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.020 1.000 2 2008 2012