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: rs3766920
rs3766920
SHC1 ; PYGO2 ; LOC101928120
1 154962487 3 prime UTR variant G/A snv 1.2E-03
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.710 1.000 1 2016 2016
dbSNP: rs4845401
rs4845401
SHC1
1 154969117 intron variant C/A;G snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2011 2011
dbSNP: rs8191981
rs8191981
SHC1
1 154968787 missense variant G/A;C snv 4.4E-03; 4.0E-06
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2018 2018
dbSNP: rs115641580
rs115641580
SHC1
1.000 0.040 1 154970435 missense variant G/A;C;T snv 1.6E-03; 8.5E-06; 8.5E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2006 2006
dbSNP: rs8191979
rs8191979
SHC1
0.882 0.160 1 154966186 missense variant T/A;C snv 4.0E-06; 4.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2004 2004
dbSNP: rs8191979
rs8191979
SHC1
0.882 0.160 1 154966186 missense variant T/A;C snv 4.0E-06; 4.1E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs8191979
rs8191979
SHC1
0.882 0.160 1 154966186 missense variant T/A;C snv 4.0E-06; 4.1E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 1999 1999