Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Endometriosis
CUI: C0014175
Disease: Endometriosis
274 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.020 1.000 2 2014 2018
Endometriosis of uterus
CUI: C0341858
Disease: Endometriosis of uterus
4 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.020 1.000 2 2014 2018
Bipolar Disorder
CUI: C0005586
Disease: Bipolar Disorder
839 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2008 2008
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2007 2007
EAR, PATELLA, SHORT STATURE SYNDROME
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
12 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2008 2008
Elastosis perforans serpiginosa
CUI: C0221271
Disease: Elastosis perforans serpiginosa
4 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2008 2008
Extrapyramidal sign
CUI: C0234133
Disease: Extrapyramidal sign
7 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2008 2008
Female Breast Carcinoma
CUI: C0007104
Disease: Female Breast Carcinoma
15 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2004 2004
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2007 2007
Malignant neoplasm of female breast
CUI: C0235653
Disease: Malignant neoplasm of female breast
15 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2004 2004
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2013 2013
Mood Disorders
CUI: C0525045
Disease: Mood Disorders
308 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2002 2002
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
1022 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2006 2006
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
122 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2015 2015
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
1168 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2013 2013
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
2897 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2008 2008
Uterine Fibroids
CUI: C0042133
Disease: Uterine Fibroids
154 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1 2006 2006