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.
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
609 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.040 1.000 4 2011 2019
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.030 0.333 3 2016 2018
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.030 0.333 3 2016 2018
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
347 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.020 0.500 2 2015 2018
Acute anterior uveitis
CUI: C0701807
Disease: Acute anterior uveitis
30 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2019 2019
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2016 2016
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
327 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2018 2018
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2018 2018
Elephantiasis
CUI: C0013882
Disease: Elephantiasis
6 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2019 2019
EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS
CUI: C1876181
Disease: EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS
2 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2013 2013
Filarial Elephantiases
CUI: C0013884
Disease: Filarial Elephantiases
10 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2019 2019
Hemiplegia
CUI: C0018991
Disease: Hemiplegia
6 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2013 2013
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
519 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2019 2019
HER-2 positive breast cancer
CUI: C1699634
Disease: HER-2 positive breast cancer
1 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2016 2016
HER2-positive carcinoma of breast
CUI: C1960398
Disease: HER2-positive carcinoma of breast
26 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2016 2016
Liver diseases
CUI: C0023895
Disease: Liver diseases
100 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1 2019 2019
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2016 2016
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2018 2018
melanoma
CUI: C0025202
Disease: melanoma
515 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2018 2018
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
865 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2020 2020
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2018 2018
Rasmussen Syndrome
CUI: C0393484
Disease: Rasmussen Syndrome
3 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2013 2013
Squamous cell carcinoma of esophagus
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
329 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2016 2016
Subacute Sclerosing Panencephalitis
CUI: C0038522
Disease: Subacute Sclerosing Panencephalitis
6 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2013 2013