WRN, WRN RecQ like helicase, 7486

N. diseases: 172; N. variants: 89
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1346044
rs1346044
0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2006 2016
dbSNP: rs1801195
rs1801195
0.776 0.240 8 31141764 missense variant G/A;T snv 8.0E-06; 0.45 0.46
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs188554751
rs188554751
0.851 0.200 8 31120403 missense variant C/T snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2230009
rs2230009
0.827 0.240 8 31064419 missense variant G/A snv 5.8E-02 7.8E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3087425
rs3087425
0.882 0.160 8 31120294 missense variant C/T snv 2.8E-03 8.7E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015