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: rs2230009
rs2230009
WRN
0.827 0.240 8 31064419 missense variant G/A snv 5.8E-02 7.8E-02
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
0.030 0.667 3 2013 2016
dbSNP: rs2230009
rs2230009
WRN
0.827 0.240 8 31064419 missense variant G/A snv 5.8E-02 7.8E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 1.000 1 2010 2010
dbSNP: rs2230009
rs2230009
WRN
0.827 0.240 8 31064419 missense variant G/A snv 5.8E-02 7.8E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2008 2008
dbSNP: rs2230009
rs2230009
WRN
0.827 0.240 8 31064419 missense variant G/A snv 5.8E-02 7.8E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 1.000 1 2008 2008
dbSNP: rs2230009
rs2230009
WRN
0.827 0.240 8 31064419 missense variant G/A snv 5.8E-02 7.8E-02
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.010 1.000 1 2015 2015