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: rs3741378
rs3741378
SIPA1
0.851 0.080 11 65641466 missense variant C/G;T snv 0.15
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 3 2016 2018
dbSNP: rs3741378
rs3741378
SIPA1
0.851 0.080 11 65641466 missense variant C/G;T snv 0.15
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2018 2018
dbSNP: rs3741378
rs3741378
SIPA1
0.851 0.080 11 65641466 missense variant C/G;T snv 0.15
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs3741378
rs3741378
SIPA1
0.851 0.080 11 65641466 missense variant C/G;T snv 0.15
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 0.333 3 2009 2014
dbSNP: rs3741378
rs3741378
SIPA1
0.851 0.080 11 65641466 missense variant C/G;T snv 0.15
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.333 3 2009 2014
dbSNP: rs3741378
rs3741378
SIPA1
0.851 0.080 11 65641466 missense variant C/G;T snv 0.15
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2006 2009
dbSNP: rs3741378
rs3741378
SIPA1
0.851 0.080 11 65641466 missense variant C/G;T snv 0.15
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs3741378
rs3741378
SIPA1
0.851 0.080 11 65641466 missense variant C/G;T snv 0.15
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.010 1.000 1 2013 2013